ID   XPH88BE LCL
AC   CVCL_1F60
SY   Xeroderma Pigmentosum Heterozygote 88 BEthesda LCL; GM16384
DR   CLO; CLO_0019396
DR   BioSample; SAMN00804504
DR   Coriell; GM16384
DR   Wikidata; Q54848493
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Lys522Ter (c.1564A>T); ClinVar=VCV000549952; Zygosity=Heterozygous (Coriell=GM16384).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1F58 ! XPH88BE
SX   Male
AG   45Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
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