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: Transcriptome analysis by RNAseq. Omics: Transcriptome analysis by single cell 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; 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 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; Q127383132
Gene expression databases	GEO; GSM7192017 GEO; GSM7192018 GEO; GSM7192019 GEO; GSM7192031
Entry history
Entry creation	30-Jan-2024
Last entry update	19-Dec-2024
Version number	3