ID   GM26117
AC   CVCL_A2VI
DR   Coriell; GM26117
DR   Wikidata; Q105506997
CC   Population: Caucasian; Lithuanian.
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Asn94Lys (c.282C>A); ClinVar=VCV000948238; Zygosity=Heterozygous (Coriell=GM26117).
CC   Sequence variation: Mutation; HGNC; HGNC:8140; OPA1; Simple; p.Ile382Met (c.1146A>G); ClinVar=VCV000050866; Zygosity=Heterozygous (Coriell=GM26117).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Glu3212Gly (c.9635A>G); ClinVar=VCV000329090; Zygosity=Heterozygous (Coriell=GM26117).
CC   Sequence variation: Mutation; HGNC; HGNC:11831; TK2; Simple; p.Arg183Trp (c.547C>T); ClinVar=VCV000038992; Zygosity=Heterozygous (Coriell=GM26117).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C120046; Congenital fiber-type disproportion
DI   ORDO; Orphanet_2020; Congenital fiber-type disproportion myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
//