Cellosaurus cell line PUMCi005-A (CVCL

Cellosaurus PUMCi005-A (CVCL_D0KG)

[Text version]

Cell line name

PUMCi005-A

Synonyms

P-iPSCs

Accession

CVCL_D0KG

Resource Identification Initiative

To cite this cell line use: PUMCi005-A (RRID:CVCL_D0KG)

Comments

From: Peking Union Medical College; Beijing; China.
Population: Asian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:1160; TWNK; Simple; p.Arg265His (c.794G>A); ClinVar=VCV002418962; Zygosity=Heterozygous (PubMed=38295749).
Mutation; HGNC; HGNC:1160; TWNK; Simple; p.Arg394His (c.1181G>A); ClinVar=VCV001320817; Zygosity=Heterozygous (PubMed=38295749).

Disease

Perrault syndrome 5 (NCIt: C206102)
Perrault syndrome (ORDO: Orphanet_2855)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

32Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=38295749

Markers:

Amelogenin	X
CSF1PO	9,12
D5S818	10
D7S820	9,11
D13S317	9,11
D16S539	9,12
D21S11	29,32.2
TH01	6,9.3
TPOX	8,9
vWA	16,17

Publications

PubMed=38295749; DOI=10.1016/j.scr.2024.103318
Wang Y.-B., Lv Y.-F., Zhang Y., Wang W.
Generation of the human induced pluripotent stem cell line PUMCi005-A from a patient with Perrault syndrome.
Stem Cell Res. 75:103318-103318(2024)

Cross-references

Cell line databases/resources

hPSCreg; PUMCi005-A

Biological sample resources

BioSamples; SAMEA112850192

Encyclopedic resources

Wikidata; Q123033283

Entry history

Entry creation

05-Oct-2023

Last entry update

19-Dec-2024

Version number