ID   GM23945
AC   CVCL_CX82
DR   Coriell; GM23945
DR   Wikidata; Q54853459
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.His641Thrfs*2 (c.1920delG); ClinVar=VCV000281941; Zygosity=Heterozygous (Coriell=GM23945).
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)
OI   CVCL_CX74 ! GM22568
SX   Female
AG   71Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 10
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