ID   XP3R
AC   CVCL_9S65
DR   JCRB; JCRB1741
DR   Wikidata; Q54994942
RX   PubMed=26090552;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 9,11
ST   D16S539: 9,12
ST   D5S818: 10,11
ST   D7S820: 11,12
ST   TH01: 7
ST   TPOX: 8,11
ST   vWA: 14,16
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_3245 ! XP3OS
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 11
//
RX   PubMed=26090552; DOI=10.1089/cell.2014.0104;
RA   Ohnishi H., Kawasaki T., Deguchi T., Yuba S.;
RT   "Generation of xeroderma pigmentosum-A patient-derived induced
RT   pluripotent stem cell line for use as future disease model.";
RL   Cell. Reprogram. 17:268-274(2015).
//