ID   MHHi021-B
AC   CVCL_A7GL
SY   R723G_K2_MOI1; bMHC_R723G_MOI1_K2
DR   hPSCreg; MHHi021-B
DR   Wikidata; Q107116372
RX   PubMed=33578365;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Sequence variation: Mutation; HGNC; 7577; MYH7; Simple; p.Arg723Gly (c.2167C>G); ClinVar=VCV000042885; Zygosity=Heterozygous (PubMed=33578365).
CC   Caution: MYH7 mutation indicated incorrectly as being at c.2169C>G in PubMed=33578365.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C172092; Familial hypertrophic cardiomyopathy type 1
DI   ORDO; Orphanet_99739; Rare familial disorder with hypertrophic cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A7GK ! MHHi021-A
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33578365; DOI=10.1016/j.scr.2021.102208;
RA   Merkert S., Wunderlich S., Beier J., Franke A., Schwanke K.,
RA   Gohring G., Kraft T., Francino A., Zweigerdt R., Martin U.;
RT   "Generation of two iPSC clones (MHHi021-A and MHHi021-B) from a
RT   patient with hypertrophic cardiomyopathy with p.Arg723Gly mutation in
RT   the MYH7 gene.";
RL   Stem Cell Res. 52:102208-102208(2021).
//