ID   GM25173
AC   CVCL_HK60
DR   Coriell; GM25173
DR   Wikidata; Q54853838
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; c.3255+1G>A; ClinVar=VCV000449502; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM25173).
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Arg8218Serfs*9 (c.24650_24651AG[2]) (c.24654_24655delAG) (p.Arg6327Serfs*9, c.18977_18978AG[2]); ClinVar=VCV000552108; Zygosity=Heterozygous (Coriell=GM25173).
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   Male
AG   11Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
//