ID   MRIi028-A
AC   CVCL_A0TH
SY   PPC-4
DR   BioSamples; SAMEA9589929
DR   EBiSC; MRIi028-A
DR   ECACC; 66770027
DR   hPSCreg; MRIi028-A
DR   Wikidata; Q108820976
RX   PubMed=35397396;
CC   From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany.
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; 25686; PPCS; Simple; p.Glu233Val (c.698A>T); ClinVar=VCV000590782; Zygosity=Homozygous (PubMed=35397396).
CC   Discontinued: ECACC; 66770027; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C186785; Dilated cardiomyopathy-2C
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 30-01-24; Version: 6
//
RX   PubMed=35397396; DOI=10.1016/j.scr.2022.102773;
RA   Iuso A., Zhang F.-F., Rusha E., Campbell B., Dorn T., Zanuttigh E.,
RA   Haas D., Anikster Y., Lederer G., Pertek A., Nteli P., Laugwitz K.-L.,
RA   Moretti A.;
RT   "Generation of two human iPSC lines, HMGUi003-A and MRIi028-A,
RT   carrying pathogenic biallelic variants in the PPCS gene.";
RL   Stem Cell Res. 61:102773-102773(2022).
//