ID   XPH89BE LCL
AC   CVCL_1F59
SY   Xeroderma Pigmentosum Heterozygote 89 BEthesda LCL; GM16383
DR   CLO; CLO_0019400
DR   Coriell; GM16383
DR   Wikidata; Q54848492
CC   Population: Jewish; Sephardic.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Glu141Leufs*6 (c.420_423delTGAG) (p.Ser140fs*146) (525_528delTGAG); ClinVar=VCV000550638; Zygosity=Heterozygous (Coriell=GM16383).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Discontinued: Coriell; GM16383; probable.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1F57 ! XPH89BE
SX   Female
AG   40Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
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