Cellosaurus cell line MRIi028-A (CVCL_A0TH)

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Cell line name	MRIi028-A
Synonyms	PPC-4
Accession	CVCL_A0TH
Resource Identification Initiative	To cite this cell line use: MRIi028-A (RRID:CVCL_A0TH)
Comments	From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany. Population: Arab. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 25686; PPCS; Simple; p.Glu233Val (c.698A>T); ClinVar=VCV000590782; Zygosity=Homozygous (PubMed=35397396).
Disease	Dilated cardiomyopathy-2C (NCIt: C186785) Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=35397396; DOI=10.1016/j.scr.2022.102773 Iuso A., Zhang F.-F., Rusha E., Campbell B., Dorn T., Zanuttigh E., Haas D., Anikster Y., Lederer G., Pertek A., Nteli P., Laugwitz K.-L., Moretti A. Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene. Stem Cell Res. 61:102773-102773(2022)
Cell line collections (Providers)	EBiSC; MRIi028-A ECACC; 66770027 - Discontinued
Cell line databases/resources	hPSCreg; MRIi028-A
Biological sample resources	BioSamples; SAMEA9589929
Encyclopedic resources	Wikidata; Q108820976
Entry history
Entry creation	23-Sep-2021
Last entry update	30-Jan-2024
Version number	6