TMEM163 c.227T>C p.(Leu76Pro) iPSC

General

Cell Line

hPSCreg name PUFHi004-A
Cite as:
PUFHi004-A (RRID:CVCL_C1VJ)
Alternative name(s)
TMEM163 c.227T>C p.(Leu76Pro) iPSC
Cell line type Human induced pluripotent stem cell (hiPSC)
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Last update 2nd May 2022
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Provider

Generator Peking University First Hospital (PUFH)
Owner Peking University First Hospital (PUFH)
Distributors
Derivation country China

External Databases

BioSamples SAMEA14299767
Cellosaurus CVCL_C1VJ
Wikidata Q114312740

General Information

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

Donor Information

General Donor Information

Sex female
Age of donor (at collection) 1-4
Ethnicity the Han Chinese

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Leukodystrophy
Genetic variants
TMEM 163 (target)
2q21.3
c.227 T > C
p.(L76P)
Heterozygous
Disease associated phenotypes
  • Delayed motor development
  • Hypomyelination of the brain white matter
  • Leukodystrophy
  • Mental retardation
Family history Her parents are healthy adults with no
Is the medical history available upon request? yes.
Is clinical information available? yes.

Karyotyping (Donor)

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

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes

External Databases (Donor)

BioSamples SAMEA14299768

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. wangjingmin_lab@163.com
Do you (Depositor/Provider) hold the original Donor Consent Form? Yes
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? Yes
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? Yes
Does consent expressly prevent development of commercial products? Yes
Does consent expressly prevent financial gain from any use of the donated embryo/tissue, including any product made from it? 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 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? No
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? Yes
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? 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 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? Yes
Please describe how access is provided:
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:
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? Peking University First Hospital
Approval number IRB00001052-19078
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? Peking University First Hospital
Approval number IRB00001052-19078
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? No
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used? Shanghai Gemple Biotechnology Co, LTD,China
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
A peripheral blood cell with a single nucleus. This category includes lymphocytes and monocytes.
Synonyms
  • PERIPHERAL BLOOD MONONUCLEAR CELL
  • Peripheral Blood Mononuclear Cell
  • PBMC
Source cell origin
A liquid tissue; its major function is to transport oxygen throughout the body. It also supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection. Several hormones also travel in the blood.
Synonyms
  • Reticuloendothelial System, Blood
  • Peripheral Blood
  • peripheral blood
  • blood
  • Blood
  • Whole Blood
  • BLOOD
  • portion of blood
  • vertebrate blood
show more synonyms
Age of donor (at collection) 1-4
Passage number reprogrammed 3

Reprogramming method

Vector type Non-integrating
Vector Episomal
Genes
Is reprogramming vector detectable?
Yes
Methods used
Immunostaining, PCR, RT-PCR, Sequencing

Vector free reprogramming

Other

Selection criteria for clones showed human embryonic stem cell (hESC)-like morphology
Derived under xeno-free conditions
Yes
Derived under GMP?
Yes
Available as clinical grade?
No

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzyme-free cell dissociation
Gentle Cell Dissociation Reagent
CO2 Concentration 5 %
Medium mTeSR™ Plus
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
NANOG
Yes
SOX2
Yes
TRA 1-60
Yes
Self-renewal
Positive
Endoderm
Positive
Mesoderm
Positive
Ectoderm score
Positive
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
Mesoderm
Ont Id: UBERON_0000926
Ectoderm
Ont Id: UBERON_0000924

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46XX
Passage number: 10
Karyotyping method: G-Banding

Other Genotyping (Cell Line)