ID   PPAC4-iPSCs
AC   CVCL_D1GX
SY   PPAC4
DR   GEO; GSM7192023
DR   GEO; GSM7192024
DR   GEO; GSM7192025
DR   Wikidata; Q127383133
RX   PubMed=37679035;
CC   Sequence variation: Mutation; HGNC; HGNC:12771; CCN6; Simple; c.49-763G>T (IVS1-763G>T); ClinVar=VCV002136453; Zygosity=Heterozygous (PubMed=37679035).
CC   Sequence variation: Mutation; HGNC; HGNC:12771; CCN6; Simple; p.Cys52Ter (c.156C>A); ClinVar=VCV000006381; Zygosity=Heterozygous (PubMed=37679035).
CC   Omics: Transcriptome analysis by RNAseq.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C202612; Progressive pseudorheumatoid dysplasia
DI   ORDO; Orphanet_1159; Progressive pseudorheumatoid arthropathy of childhood
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37679035; DOI=10.1136/ard-2023-224304;
RA   Li C.-C., Alemany-Ribes M., Raftery R.M., Nwoko U., Warman M.L.,
RA   Craft A.M.;
RT   "Directed differentiation of human pluripotent stem cells into
RT   articular cartilage reveals effects caused by absence of WISP3, the
RT   gene responsible for progressive pseudorheumatoid arthropathy of
RT   childhood.";
RL   Ann. Rheum. Dis. 82:1547-1557(2023).
//