ID   GM29194
AC   CVCL_F0YG
SY   GM29194*B
DR   Coriell; GM29194
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Glu95Aspfs*32 (c.285_286delGC); Zygosity=Heterozygous (Coriell=GM29194).
CC   Sequence variation: Mutation; HGNC; HGNC:129; ACTA1; Simple; p.Lys215Met (c.644A>T); Zygosity=Heterozygous (Coriell=GM29194).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129870; Nemaline myopathy 3
DI   ORDO; Orphanet_171436; Typical nemaline myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_LP10 ! GM26267
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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