ID   HPIi012-A
AC   CVCL_D6KL
SY   MYH7-19203-R1D
DR   BioSamples; SAMEA115133467
DR   hPSCreg; HPIi012-A
DR   Wikidata; Q127381787
CC   From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 7577; MYH7; Simple; p.Lys1617del (c.4850_4852delAGA) (c.4844AGA[2]); ClinVar=VCV000190401; Zygosity=Heterozygous (hPSCreg=HPIi012-A).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206090; Autosomal dominant myosin storage congenital myopathy 7A
DI   ORDO; Orphanet_53698; Myosin storage myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
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