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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; 1160; TWNK; Simple; p.Arg265His (c.794G>A); ClinVar=VCV002418962; Zygosity=Heterozygous (PubMed=38295749).
  • Mutation; HGNC; 1160; TWNK; Simple; p.Arg394His (c.1181G>A); ClinVar=VCV001320817; Zygosity=Heterozygous (PubMed=38295749).
Disease Perrault syndrome (NCIt: 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:
AmelogeninX
CSF1PO9,12
D5S81810
D7S8209,11
D13S3179,11
D16S5399,12
D21S1129,32.2
TH016,9.3
TPOX8,9
vWA16,17

Run an STR similarity search on this cell line
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 creation05-Oct-2023
Last entry update02-May-2024
Version number3