ID   GM23151
AC   CVCL_CX75
DR   Coriell; GM23151
DR   Wikidata; Q54852908
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.His641Thrfs*2 (c.1920delG); ClinVar=VCV000281941; Zygosity=Heterozygous (Coriell=GM23151).
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_CX72 ! GM22566
SX   Female
AG   39Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
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