ID   GM26264
AC   CVCL_A2WI
DR   Coriell; GM26264
DR   Wikidata; Q105507076
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:7720; NEB; Simple; p.Ser8228Ser (c.24684G>A) (p.Ser8193Ser, c.24579G>A) (p.Ser6337Ser, c.19011G>A); ClinVar=VCV000521691; Zygosity=Unspecified (Coriell=GM26264).
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   2Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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