ID   ICANi001-A
AC   CVCL_A5RE
SY   ICANi001-P; CDGEN1.16
DR   BioSamples; SAMEA10202562
DR   hPSCreg; ICANi001-A
DR   Wikidata; Q107115415
RX   PubMed=33610018;
CC   From: INSERM U1166-Institute of Cardiometabolism and Nutrition; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7577; MYH7; Simple_edited; p.Arg403Leu (c.1208G>T); ClinVar=VCV000014101; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33610018).
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)
SX   Female
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
CH   CVCL_A5RF ! ICANi001-A-1
//
RX   PubMed=33610018; DOI=10.1016/j.scr.2021.102245;
RA   Fontaine, Vincent
RA   Duboscq-Bidot, Laetitia
RA   Jouve, Charlene
RA   Hamlin, Matthieu
RA   Curjol, Angelique
RA   Briand, Veronique
RA   Janiak, Philip
RA   Hulot, Jean-Sebastien
RA   Pruniaux-Harnist, Marie-Pierre
RA   Charron, Philippe
RA   Villard, Eric
RT   "Generation of iPSC line from MYH7 R403L mutation carrier with severe
RT   hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected
RT   control.";
RL   Stem Cell Res. 52:102245-102245(2021).
//