Cellosaurus cell line PPAC4-iPSCs (CVCL

Cross-references
Cell line name	PPAC4-iPSCs
Synonyms	PPAC4
Accession	CVCL_D1GX
Resource Identification Initiative	To cite this cell line use: PPAC4-iPSCs (RRID:CVCL_D1GX)
Comments	Omics: Transcriptomics; RNAseq. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12771; CCN6; Simple; c.49-763G>T (IVS1-763G>T); ClinVar=VCV002136453; Zygosity=Heterozygous (PubMed=37679035). Mutation; HGNC; HGNC:12771; CCN6; Simple; p.Cys52Ter (c.156C>A); ClinVar=VCV000006381; Zygosity=Heterozygous (PubMed=37679035).
Disease	Progressive pseudorheumatoid dysplasia (NCIt: C202612) Progressive pseudorheumatoid arthropathy of childhood (ORDO: Orphanet_1159)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Category	Induced pluripotent stem cell
Publications	PubMed=37679035; DOI=10.1136/ard-2023-224304 Chao-Chang Li, Mireia Alemany-Ribes, Rosanne M. Raftery, Uzochi Nwoko, Matthew L. Warman, April M. Craft; Directed differentiation of human pluripotent stem cells into articular cartilage reveals effects caused by absence of WISP3, the gene responsible for progressive pseudorheumatoid arthropathy of childhood. Ann. Rheum. Dis. 82:1547-1557(2023)
Encyclopedic resources	Wikidata; Q127383133
Gene expression databases	GEO; GSM7192023 GEO; GSM7192024 GEO; GSM7192025
Entry history
Entry creation	30-Jan-2024
Last entry update	10-Apr-2025
Version number	4