ID   XP3OS(SVT)
AC   CVCL_3246
DR   BioSample; SAMN03472492
DR   JCRB; JCRB1055
DR   JCRB; KURB1005
DR   JCRB; NIHS0304
DR   Wikidata; Q54994938
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   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
CC   Discontinued: JCRB; NIHS0304; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB1055
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   Transformed cell line
DT   Created: 04-04-12; Last updated: 10-09-24; Version: 26
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