ID   GM25161
AC   CVCL_HK58
DR   Coriell; GM25161
DR   Wikidata; Q54853833
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Ser8073Ter (c.24218C>A); ClinVar=VCV000496134; Zygosity=Heterozygous (Coriell=GM25161).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; c.13059+5G>A; ClinVar=VCV002154406; Zygosity=Heterozygous (Coriell=GM25161).
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   7Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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