Cellosaurus cell line MHHi021-A (CVCL

Cross-references
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; 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 Sylvia Merkert, Stephanie Wunderlich, Jakob Beier, Axel Franke, Kristin Schwanke, Gudrun Gohring, Theresia Kraft, Antonio Francino, Robert Zweigerdt, Ulrich Martin; 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)
Cell line databases/resources	hPSCreg; MHHi021-A
Encyclopedic resources	Wikidata; Q107116371
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6