ID   XPEMB-1 iPS
AC   CVCL_RX70
SY   XPEMB-1 iPS3; XPAiPS-E3
DR   GEO; GSM1338616
DR   Wikidata; Q54994982
RX   PubMed=27197874;
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=27197874).
CC   Omics: Genomics; Whole exome sequencing.
CC   Misspelling: EPEMB-1 iPS3; GEO=GSM1338616.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_3252 ! XPEMB-1
SX   Sex unspecified
AG   Fetus
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 10-04-25; Version: 12
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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).
//