ID   XP39OSTERT
AC   CVCL_3249
SY   XP39OS hTERT
DR   BioSample; SAMN03472494
DR   JCRB; JCRB1057
DR   JCRB; KURB1015
DR   JCRB; NIHS0307
DR   Wikidata; Q54994923
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Homozygous (from parent cell line).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Discontinued: JCRB; KURB1015; probable.
CC   Discontinued: JCRB; NIHS0307; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB1057
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 9,11
ST   D16S539: 10,12
ST   D5S818: 11,12
ST   D7S820: 11,12
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 17,18
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_3248 ! XP39OS
SX   Female
AG   12Y
CA   Telomerase immortalized cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 22
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