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Cellosaurus HPIi010-A (CVCL_D6KJ)

[Text version]
Cell line name HPIi010-A
Synonyms MYH7-17773-R4A
Accession CVCL_D6KJ
Resource Identification Initiative To cite this cell line use: HPIi010-A (RRID:CVCL_D6KJ)
Comments From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia.
Population: African; Angolan.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7577; MYH7; Simple; p.Lys1617del (c.4850_4852delAGA) (c.4844AGA[2]); ClinVar=VCV000190401; Zygosity=Heterozygous (hPSCreg=HPIi010-A).
Disease Autosomal dominant myosin storage congenital myopathy 7A (NCIt: C206090)
Myosin storage myopathy (ORDO: Orphanet_53698)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10-14Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; HPIi010-A
Biological sample resources BioSamples; SAMEA115133465
Encyclopedic resources Wikidata; Q127381785
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2