P4_wt4, patient 1 control 1

General#

Cell Line

hPSCreg Name
UKAi004-A
Alternative name(s)
P4_wt4, patient 1 control 1
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 10th March 2021
Notes Toledo et al., Blood, ePub ahead of print, 2020 Dec 23
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Provider

Generator Universitätsklinikum Aachen (UKA)
Owner Universitätsklinikum Aachen (UKA)
Distributors
Derivation country Germany

External Databases

BioSamples SAMEA8172007
CLO CLO_0103233
Cellosaurus CVCL_A5IU

General Information

Publications
* Is the cell line readily obtainable for third parties?
Yes
Research: allowed
Clinical: not allowed
Commercial: not allowed

Donor Information#

General Donor Information

Sex male
Age of donor (at collection) 60-64

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
systemic mastocytosis
Aggressive mastocytosis The donor peripheral blood cells (primary sample) used for reprogramming and iPSC generation are heterogeneous and genetically mosaic. Therefore the five iPSC lines from this donor (UKAi004-A to UKAi004-E) have different allele frequencies than the primary sample for the mutations tested. Please see Table 1 of Toledo et al. 2021 for the allele frequencies of the primary sample and the iPSC lines.
The donor is a carrier of a disease-associated mutation and affected.
Stage
Organs affected: hepatosplenomegaly, lyphnodes, osteoporosis, low platelets
Synonyms
  • SMCD - systemic mast cell disease
  • systemic tissue mast cell disease
Genetic variants
ABL1 (target)
9q34.12
c.2972C.T
p.Ser991Leu
Heterozygous
NM_007313
ASXL (target)
20q11.21
c.2444T.C
p.Leu815Pro
Homozygous
VCV000013852
NFE2 (target)
c.782_785del
p.Glu261Alafs*3
Heterozygous
NM_006163
NRAS (target)
c.35G.A
p.Gly12Asp
Heterozygous
NM_002524
TET2 (target)
4q24
c.2917delT
p.Cys973Alafs*34
Heterozygous
NM_001127208
TET2 (target)
c.5284A.G
p.Ile1762Val
Homozygous
VCV000135287.1
TP53 (target)
17p13.1
c.215C.G
p.Pro72Arg
Heterozygous
VCV000012351.11
The donor peripheral blood cells (primary sample) used for reprogramming and iPSC generation are heterogeneous and genetically mosaic. Therefore the five iPSC lines from this donor (UKAi004-A to UKAi004-E) have different allele frequencies than the primary sample for the mutations tested. Please see Table 1 of Toledo et al. 2021 for the allele frequencies of the primary sample and the iPSC lines.
KIT (target)
4q12
NM_000222.3:c.2447A>T
NP_000213.1:p.Asp816Val
Heterozygous
VCV000013852.5

Karyotyping (Donor)

Has the donor karyotype been analysed?
No

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
No

Donor Relations

Other cell lines of this donor

External Databases (Donor)

BioSamples SAMEA8172012

Ethics#

Has informed consent been obtained from the donor of the embryo/tissue from which the pluripotent stem cells have been derived? Yes
Was the consent voluntarily given? Yes
Has the donor been informed that participation will not directly influence their personal treatment? Yes
Can you provide us with a copy of the Donor Information Sheet provided to the donor? No
Provide contact information of the holder of the original Donor Information Sheet: Universitätsklinikum Aachen (UKA)
Do you (Depositor/Provider) hold the original Donor Consent Form? No
If you do not hold the Donor Consent Form, do you know who does? Yes
Contact information / weblink Universitätsklinikum Aachen (UKA)
Alternatives to consent are available? No
Is there other documentation provided to the donor for consenting purposes? No
Confirm that consent was obtained by a qualified professional Yes
Has the donor agreed to be re-contacted? No
Has the donor been informed about how her/his data will be protected? Yes
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. pseudonymised
Does consent explicitly allow the derivation of pluripotent stem cells? Yes
Does consent expressly prevent the derivation of pluripotent stem cells? No
Does consent pertain to a specific research project? No
Does consent permit unforeseen future research, without further consent? Yes
Does the consent permit uses of donated embryo/tissue or derived cell line intended for clinical treatment or human applications? No
Does consent expressly prevent development of commercial products? No
Does consent expressly prevent financial gain from any use of the donated embryo/tissue, including any product made from it? No
Does consent expressly permit storage of donated embryo/tissue for an unlimited time? Yes
Does consent expressly permit storage of cells derived from the donated embryo/tissue for an unlimited time? Yes
Does consent prevent the DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
Does consent prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No

Does consent permit research by

an academic institution? Yes
a public organisation? Yes
a non-profit company? Yes
a for-profit corporation? Yes
Does consent expressly permit collection of genetic information? Yes
Does consent expressly permit storage of genetic information? Yes
Does consent prevent dissemination of genetic information? No
Has the donor been informed that their donated biosample or derived cells may be tested for the presence of microbiological agents / pathogens? Yes
Has the donor consented to receive information discovered during use of donated embryo/tissue that has significant health implications for the donor? No
How may genetic information associated with the cell line be accessed? Controlled Access
Will the donor expect to receive financial benefit, beyond reasonable expenses, in return for donating the biosample? No
Does the consent anticipate that the donor will be notified of results or outcomes of any research involving the donated samples or derived cells? No
Does the consent permit the donor, upon withdrawal of consent, to stop the use of the derived cell line(s) that have already been created from donated samples? Yes
Does the consent permit the donor, upon withdrawal of consent, to stop delivery or use of information and data about the donor? Yes
Does consent permit access to medical records of the donor? No
Does consent permit access to any other source of information about the clinical treatment or health of the donor? No
Has a favourable opinion been obtained from a research ethics committee, or other ethics review panel, in relation to the Research Protocol including the consent provisions? Yes
Name of accrediting authority involved? Ethics Commission of Medical Faculty of RWTH Aachen University
Approval number EK 206/09
Has a favourable opinion been obtained from a research ethics committee, or other ethics review panel, in relation to the PROPOSED PROJECT, involving use of donated embryo/tissue or derived cells? Yes
Name of accrediting authority involved? Ethics Commission of Medical Faculty of RWTH Aachen University
Approval number EK 206/09
Do you have obligations to third parties in regard to the use of the cell line? No
Are you aware of any further constraints on the use of the donated embryo/tissue or derived cells? No
Is there an MTA available for the cell line? Yes
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used? Life Technologies
Are you aware of any constraints on the use or distribution of the cell line from the owner or any parties identified in the query above? No

hIPSC Derivation#

General

Source cell type
peripheral blood
Blood circulating throughout the body.
Source cell origin
peripheral blood
Blood circulating throughout the body.
Source cell type (free text) CD34+ cells (MACS)
Age of donor (at collection) 60-64
Collected in 2015
Passage number reprogrammed 0

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
Unknown

Vector free reprogramming

Other

Selection criteria for clones Human ES cell-like morphology
Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions#

Surface coating Gelatin
Feeder cells mouse embryonic fibroblasts
Passage method Enzymatically
Collagenase
O2 Concentration 21 %
CO2 Concentration 5 %
Medium Other medium:
Base medium: Knock out DMEM
Main protein source: Knock-out serum replacement
Serum concentration: 20 %
Supplements
bFGF 10 ng/ml
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation#

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
NANOG
Yes
TRA 1-60
Yes
TRA 1-81
Yes
Score: 0,44
Marker Present Absent
mCpG X
OCT4 X
Morphology pictures
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
SOX 17
Yes
human albumin
Yes
alpha fetoprotein
Yes
NKX2-5
Yes
Hematopoietic Precursor Cell
Ont Id: CL_0008001
In vitro spontaneous differentiation
Marker Expressed
CD34
Yes
MHC6
Yes
CDH5
Yes
T
Yes
CD31
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
Sox1
Yes
GFAP
Yes
PAX6
Yes

Microbiology / Virus Screening

HIV 1 Negative
HIV 2 Negative
Hepatitis B Negative
Hepatitis C Negative
Mycoplasma Negative

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46 XY
Karyotyping method: G-Banding

Other Genotyping (Cell Line)