ID   GM25251
AC   CVCL_HK62
DR   Coriell; GM25251
DR   Wikidata; Q54853851
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Arg2809Ter (c.8425C>T); ClinVar=VCV001213189; Zygosity=Heterozygous (Coriell=GM25251).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Leu8106Ter (c.24317T>A); ClinVar=VCV000551889; Zygosity=Heterozygous (Coriell=GM25251).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C118784; Nemaline myopathy 2
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_HK61 ! GM25250
SX   Female
AG   5Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 14
//