ID   PUMCi005-A
AC   CVCL_D0KG
SY   P-iPSCs
DR   BioSamples; SAMEA112850192
DR   hPSCreg; PUMCi005-A
DR   Wikidata; Q123033283
RX   PubMed=38295749;
CC   From: Peking Union Medical College; Beijing; China.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:1160; TWNK; Simple; p.Arg265His (c.794G>A); ClinVar=VCV002418962; Zygosity=Heterozygous (PubMed=38295749).
CC   Sequence variation: Mutation; HGNC; HGNC:1160; TWNK; Simple; p.Arg394His (c.1181G>A); ClinVar=VCV001320817; Zygosity=Heterozygous (PubMed=38295749).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=38295749
ST   Amelogenin: X
ST   CSF1PO: 9,12
ST   D13S317: 9,11
ST   D16S539: 9,12
ST   D21S11: 29,32.2
ST   D5S818: 10
ST   D7S820: 9,11
ST   TH01: 6,9.3
ST   TPOX: 8,9
ST   vWA: 16,17
DI   NCIt; C206102; Perrault syndrome 5
DI   ORDO; Orphanet_2855; Perrault syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 5
//
RX   PubMed=38295749; DOI=10.1016/j.scr.2024.103318;
RA   Wang Y.-B., Lv Y.-F., Zhang Y., Wang W.;
RT   "Generation of the human induced pluripotent stem cell line PUMCi005-A
RT   from a patient with Perrault syndrome.";
RL   Stem Cell Res. 75:103318-103318(2024).
//