UNIZARi001-A

FiPSTK2-2

General

Cell Line

hPSCreg name UNIZARi001-A
Cite as:
UNIZARi001-A (RRID:CVCL_B5RL)
Alternative name(s)
FiPSTK2-2
Cell line type Human induced pluripotent stem cell (hiPSC)
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Last update 7th January 2022
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Provider

Generator University of Zaragoza (UNIZAR)
Derivation country Spain

External Databases

BioSamples SAMEA10984146
Cellosaurus CVCL_B5RL
Wikidata Q112041895

General Information

Publications
* Is the cell line readily obtainable for third parties?
No

Donor Information

General Donor Information

Sex male
Age of donor (at collection) 15-19
Ethnicity White Latino

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
TK2-deficient myopathy (consistent with OMIM:609560, "...mitochondrial DNA (mtDNA) depletion syndrome-2 (MTDPS2) is caused by homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene (TK2; 188250) on chromosome 16q21.")
Synonyms
  • mtDNA depletion syndrome, myopathic form
Genetic variants
TK2 (target)
16q21
TK2 nuclear gene (c.388C > T)
TK2 nuclear gene (p.R130W)
Heterozygous
Two heterozygous mutations in TK2 gene (c.388C > T; p.R130W and c.604_606delAAG; p.K202del)
TK2 (target)
TK2 gene (c.604_606delAAG)
TK2 gene (p.K202del)
Two heterozygous mutations in TK2 gene (c.388C > T; p.R130W and c.604_606delAAG; p.K202del)
Disease associated phenotypes
  • TK2-deficient myopathy

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
Karyotyping method: G-Banding

Other Genotyping (Donor)

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

External Databases (Donor)

BioSamples SAMEA10984325

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
Please provide contact information of the holder of the original Donor Information Sheet. Dr. Andrés Nascimento. Hospital Sant Joan de Déu, Barcelona, Spain
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
Please provide the contact information Dr. Andrés Nascimento. Hospital Sant Joan de Déu, Barcelona, Spain
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? Unknown
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. anonymised
Does consent explicitly allow the derivation of pluripotent stem cells? No
Does consent expressly prevent the derivation of pluripotent stem cells? No
Does consent pertain to a specific research project? Yes
Details on restriction to research project Instituto de Salud Carlos III. FIS-PI17/00021
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? Yes
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 CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
Does consent expressly permit collection of genetic information? Yes
Does consent expressly permit storage of genetic information? Yes
Has the donor consented to receive information discovered during use of donated embryo/tissue that has significant health implications for the donor? Yes
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? Yes
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 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? Yes
Contact data, institution, or website: Hospital Sant Joan de Déu, Barcelona, Spain
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? Comité Ético de Investigación Clínica de Aragón
Approval number CEICA-13/2017
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? Comité Ético de Investigación Clínica de Aragón
Approval number CEICA-13/2017
Do you have obligations to third parties in regard to the use of the cell line? No
Is there an MTA available for the cell line? No
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used? ThermoFisher Scientific

hIPSC Derivation

General

Source cell type
Synonyms
  • fibroblast
  • Fibroblasts
  • Fibroblast
  • FIBROBLAST
show more synonyms
Source cell origin
An organ that constitutes the external surface of the body. It consists of the epidermis, dermis, and skin appendages.
Synonyms
  • Skin
  • Human Skin
  • SKIN
  • Integument
  • Skin, total
  • Skin, NOS
  • Skin structure (body structure)
  • entire skin
  • skin of body
  • skin organ
show more synonyms
Age of donor (at collection) 15-19
Passage number reprogrammed 5

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
Yes
Methods used
RT-PCR

Vector free reprogramming

Other

Selection criteria for clones Markers expression and morphology
Derived under xeno-free conditions
Yes
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

Culture Conditions

Surface coating Vitronectin
Feeder cells
No
Passage method Enzyme-free cell dissociation
EDTA
CO2 Concentration 5 %
Medium Essential 8™ Flex

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
NANOG
Yes
SOX2
Yes
POU5F1 (OCT-4)
Yes
TRA 1-60
Yes
Alkaline Phosphatase
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
AFP
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
SMA
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
TUBB3
Yes

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XY
Passage number: 17

Other Genotyping (Cell Line)