ID   XP18OSHM
AC   CVCL_ZM56
SY   Xeroderma Pigmentosum 18 OSaka Heterozygote Mother
DR   JCRB; KURB1331
DR   Wikidata; Q98135382
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Tyr116Ter (c.348T>A); ClinVar=VCV000000997; Zygosity=Heterozygous (from familial inference of XP18OS).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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