ID   GM17419
AC   CVCL_1F73
DR   CLO; CLO_0012256
DR   Coriell; GM17419
DR   Wikidata; Q54848856
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Unexplicit; IVS2+1G>A; Zygosity=Homozygous; Note=Splice donor mutation (from familial inference of XP86BE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1F74 ! GM17420
SX   Male
AG   35Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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