ID   GM29212
AC   CVCL_F0YM
SY   GM29212*B
DR   Coriell; GM29212
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple; c.3337-4dupC (c.3337-3dupC); ClinVar=VCV000042956; Zygosity=Heterozygous (Coriell=GM29212).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Gly334Val (c.1001G>T); ClinVar=VCV000159825; Zygosity=Heterozygous (Coriell=GM29212).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; c.1186_1187delinsTC; Zygosity=Heterozygous (Coriell=GM29212).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Pro2496Arg (c.7487C>G); ClinVar=VCV000159859; Zygosity=Heterozygous (Coriell=GM29212).
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple; p.Arg3113His (c.9338G>A); ClinVar=VCV000130688; Zygosity=Heterozygous (Coriell=GM29212).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126689; Centronuclear myopathy 1
DI   ORDO; Orphanet_169189; Autosomal dominant centronuclear myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A2VL ! GM26130
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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