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Cellosaurus MHHi021-A (CVCL_A7GK)

[Text version]
Cell line name MHHi021-A
Synonyms R723G_K1_MOI10; bMHC_R723G_MOI10_K1
Accession CVCL_A7GK
Resource Identification Initiative To cite this cell line use: MHHi021-A (RRID:CVCL_A7GK)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
Caution: MYH7 mutation indicated incorrectly as being at c.2169C>G in PubMed=33578365.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7577; MYH7; Simple; p.Arg723Gly (c.2167C>G); ClinVar=VCV000042885; Zygosity=Heterozygous (PubMed=33578365).
Disease Familial hypertrophic cardiomyopathy type 1 (NCIt: C172092)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A7GL ! MHHi021-B
Sex of cell Male
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=33578365; DOI=10.1016/j.scr.2021.102208
Merkert S., Wunderlich S., Beier J., Franke A., Schwanke K., Gohring G., Kraft T., Francino A., Zweigerdt R., Martin U.
Generation of two iPSC clones (MHHi021-A and MHHi021-B) from a patient with hypertrophic cardiomyopathy with p.Arg723Gly mutation in the MYH7 gene.
Stem Cell Res. 52:102208-102208(2021)

Cross-references
Cell line databases/resources hPSCreg; MHHi021-A
Encyclopedic resources Wikidata; Q107116371
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5