ID   GM23152
AC   CVCL_CX76
DR   Coriell; GM23152
DR   Wikidata; Q54852909
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; c.1554-1009G>A (IVS9-1009G>A); ClinVar=VCV000553804; Zygosity=Heterozygous (Coriell=GM23152).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_CX73 ! GM22567
SX   Male
AG   50Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
//