ID   UNIPVi004-A
AC   CVCL_D0NE
SY   COR316; NG3157
DR   BioSamples; SAMEA113552511
DR   hPSCreg; UNIPVi004-A
DR   Wikidata; Q123033752
RX   PubMed=38100914;
CC   From: Units of Biology and Genetics, University of Pavia; Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:25801; CPLANE1; Simple; p.Gly48Glu (c.143G>A); ClinVar=VCV001447842; Zygosity=Heterozygous (PubMed=38100914).
CC   Sequence variation: Mutation; HGNC; HGNC:25801; CPLANE1; Simple; p.Leu595Ter (c.1784T>G); ClinVar=VCV000217580; Zygosity=Heterozygous (PubMed=38100914).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C175702; Joubert syndrome 17
DI   ORDO; Orphanet_475; Joubert syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=38100914; DOI=10.1016/j.scr.2023.103267; PMCID=PMC10805004;
RA   Mazzotta, Concetta
RA   Serpieri, Valentina
RA   Orsi, Andrea
RA   Cavan, Silvia
RA   Rossi, Elisabetta
RA   Stanzial, Franco
RA   Valente, Enza Maria
RT   "Generation of iPSC line from a Joubert syndrome patient with compound
RT   heterozygous mutations in CPLANE1 gene.";
RL   Stem Cell Res. 74:103267-103267(2024).
//