Cellosaurus cell line PPAC1-C-iPSCs (CVCL

Cellosaurus PPAC1-C-iPSCs (CVCL_D1GW)

Cross-references
Cell line name	PPAC1-C-iPSCs
Synonyms	PPAC1-C; PPAC1C
Accession	CVCL_D1GW
Resource Identification Initiative	To cite this cell line use: PPAC1-C-iPSCs (RRID:CVCL_D1GW)
Comments	Omics: Transcriptomics; RNAseq. Omics: Transcriptomics; RNAseq; Single cell. 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; p.Cys52Ter (c.156C>A); ClinVar=VCV000006381; Zygosity=Heterozygous (PubMed=37679035). Mutation; HGNC; HGNC:12771; CCN6; Simple_corrected; p.Cys52Ter (c.156C>A); ClinVar=VCV000006381; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (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)
Hierarchy	Parent: CVCL_D1GV (PPAC1-iPSCs)
Sex of cell	Female
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; Q127383132
Gene expression databases	GEO; GSM7192017 GEO; GSM7192018 GEO; GSM7192019 GEO; GSM7192031
Entry history
Entry creation	30-Jan-2024
Last entry update	10-Apr-2025
Version number	4