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: Transcriptome analysis by 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 Li C.-C., Alemany-Ribes M., Raftery R.M., Nwoko U., Warman M.L., Craft A.M. 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	19-Dec-2024
Version number	3