ID   GM22566
AC   CVCL_CX72
DR   Coriell; GM22566
DR   Wikidata; Q54852625
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.His641Thrfs*2 (c.1920delG); ClinVar=VCV000281941; Zygosity=Heterozygous (Coriell=GM22566).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_CX75 ! GM23151
SX   Female
AG   39Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
//