ID   GM24523
AC   CVCL_HK54
DR   Coriell; GM24523
DR   Wikidata; Q54853777
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; c.12018+1G>A; ClinVar=VCV000265494; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM24523).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Met8154Ilefs*13 (c.24458_24461dupAGAT); ClinVar=VCV000551882; Zygosity=Heterozygous (Coriell=GM24523).
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   4Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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