GM27291

General

Cell Line

hPSCreg Name
CIMRi001-A
Alternative name(s)
GM27291
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 9th June 2022
Notes Cell line is available from the NIGMS Repository catalog at GM27291
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Provider

Generator Coriell Institute for Medical Research (CIMR)
Distributors
Derivation country United States

External Databases

BioSamples SAMEA10457755
CLO CLO_0103559
Cellosaurus CVCL_VV62
Wikidata Q93933153

General Information

Publications
* Is the cell line readily obtainable for third parties?
Yes
Research use: allowed
Clinical use: allowed
Commercial use: allowed

Donor Information

General Donor Information

Sex male
Ethnicity White; Ashkenazi Jewish

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Vici Syndrome
Synonyms
  • VICIS
  • Vici Syndrome
Genetic variants
EPG5 (target)
18q12.3-q21.1
c.1007A>G
p.Q336R
Homozygous
VCV000192333.5
Disease associated phenotypes
  • Failure to thrive
  • Seizures
  • Brain abnormalities
  • Mild hypertrophic cardiomyopathy
  • Severe myopathy/hypotonia
  • MRI showed multiple lesions including pontocerebellar hyperplasia, asgenesis of corpus callosum, and decreased myelination
  • Facial dysmorphism
  • Cataracts
  • Optic atrophy
  • Chronic lung disease
  • Obstructive sleep apnea
  • Unable to follow verbal commands

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
46, XY[25].arr[hg19]4q12(57,053,403-58,249,858)x3
Karyotyping method: G-Banding

External Databases (Donor)

BioSamples SAMEA12877432

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? Yes
Do you (Depositor/Provider) hold the original Donor Consent Form? 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 consent expressly prevent development of commercial products? 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 prevent dissemination of genetic information? No
How may genetic information associated with the cell line be accessed? Open Access
Will the donor expect to receive financial benefit, beyond reasonable expenses, in return for donating the biosample? 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? Coriell Institute for Medical Research IRB
Approval number R116
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?
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 line name GM26636
Source cell type
Fibroblast
Synonyms
  • fibroblast
  • Fibroblasts
  • Fibroblast
  • FIBROBLAST
show more synonyms
Source cell line vendor Coriell Institute for Medical Research

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
No
Methods used
RT-PCR

Vector free reprogramming

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

Culture Conditions

Surface coating Gelatin
Feeder cells CF1 MEF
Passage method Enzymatically
TrypLE
CO2 Concentration 5 %
Medium Other medium:
Base medium: DMEM/F12
Main protein source: Knock-out serum replacement
Serum concentration: 20 %
Supplements
bFGF 10 ng/ml
L-glutamine 2 mM
Non-essential amino acids 100 µM
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
SSEA-4
Yes
Alkaline Phosphatase
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
Other
Marker Expressed
AFP
Yes
FOXA2
Yes
SOX17
Yes
SOX7
Yes
Mesoderm
Ont Id: UBERON_0000926
Other
Marker Expressed
T
Yes
RUNX1
Yes
DES
Yes
PECAM1
Yes
TAL1
Yes
Ectoderm
Ont Id: UBERON_0000924
Other
Marker Expressed
PAX6
No
NES
No
TP63
Yes
KRT14
Yes
NOG
Yes

Microbiology / Virus Screening

Mycoplasma Negative

Certificate of Analysis

Is there a certificate of analysis available?
Yes
Passage:

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XY[25].arr[hg19]4q12(57,053,403-58,249,858)x3
Passage number: 21
Karyotyping method: G-Banding

Other Genotyping (Cell Line)