ID   GM25250
AC   CVCL_HK61
DR   Coriell; GM25250
DR   Wikidata; Q54853850
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Arg2809Ter (c.8425C>T); ClinVar=VCV001213189; Zygosity=Heterozygous (Coriell=GM25250).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Leu8106Ter (c.24317T>A); ClinVar=VCV000551889; Zygosity=Heterozygous (Coriell=GM25250).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118784; Nemaline myopathy 2
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_HK62 ! GM25251
SX   Female
AG   5Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 13
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