Cellosaurus cell line HMGUi003-A (CVCL

Cross-references
Cell line name	HMGUi003-A
Synonyms	95595; PPCS-Cl2
Accession	CVCL_C0HS
Resource Identification Initiative	To cite this cell line use: HMGUi003-A (RRID:CVCL_C0HS)
Comments	From: Helmholtz Zentrum Munchen; Neuherberg; Germany. Population: Caucasian; German. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:25686; PPCS; Simple; p.Pro107_Ala111del (c.320_334del); ClinVar=VCV000590784; Zygosity=Heterozygous (PubMed=35397396). Mutation; HGNC; HGNC:25686; PPCS; Simple; p.Ala180Pro (c.538G>C); ClinVar=VCV000590783; Zygosity=Heterozygous (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	Female
Age at sampling	3M
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 databases/resources	hPSCreg; HMGUi003-A
Biological sample resources	BioSamples; SAMEA11371739
Encyclopedic resources	Wikidata; Q112929733
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5