ID   GM23929
AC   CVCL_Y603
DR   Coriell; GM23929
DR   Wikidata; Q54853453
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Trp5885Ter (c.17654G>A) (p.Trp4184Ter, c.12551G>A); ClinVar=VCV001076162; Zygosity=Heterozygous (Coriell=GM23929).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Phe8257Leufs*10 (c.24771delT) (p.Phe6366Leufs*10, c.19098delT); ClinVar=VCV000279999; Zygosity=Heterozygous (Coriell=GM23929).
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)
SX   Female
AG   5Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
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