ID   XP3OS iPS
AC   CVCL_QW49
SY   XP3OS iPS1; XPAiPS-O1
DR   GEO; GSM1338612
DR   Wikidata; Q54994937
RX   PubMed=27197874;
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 (PubMed=27197874).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=27197874
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 9,11
ST   D16S539: 9,12
ST   D18S51: 13
ST   D21S11: 29,30
ST   D3S1358: 15,16
ST   D5S818: 10,11
ST   D7S820: 11,12
ST   D8S1179: 13,15
ST   FGA: 22,23
ST   Penta D: 9
ST   Penta E: 14,17
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: 15-11-17; Last updated: 29-06-23; Version: 11
//
RX   PubMed=27197874; DOI=10.1038/srep26342; PMCID=PMC4873825;
RA   Okamura K., Sakaguchi H., Sakamoto-Abutani R., Nakanishi M.,
RA   Nishimura K., Yamazaki-Inoue M., Ohtaka M., Periasamy V.S.,
RA   Alshatwi A.A., Higuchi A., Hanaoka K., Nakabayashi K., Takada S.,
RA   Hata K., Toyoda M., Umezawa A.;
RT   "Distinctive features of single nucleotide alterations in induced
RT   pluripotent stem cells with different types of DNA repair deficiency
RT   disorders.";
RL   Sci. Rep. 6:26342-26342(2016).
//