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Cellosaurus HMGUi003-A (CVCL_C0HS)

[Text version]
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; 25686; PPCS; Simple; p.Pro107_Ala111del (c.320_334del); ClinVar=VCV000590784; Zygosity=Heterozygous (PubMed=35397396).
  • Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; HMGUi003-A
Biological sample resources BioSamples; SAMEA11371739
Encyclopedic resources Wikidata; Q112929733
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4