ID   UNIPVi001-A
AC   CVCL_C6TC
SY   COR248; NG2409
DR   BioSamples; SAMEA110683809
DR   hPSCreg; UNIPVi001-A
DR   Wikidata; Q117704940
RX   PubMed=36521382;
CC   From: Units of Biology and Genetics, University of Pavia; Pavia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 21575; AHI1; Simple; p.Gln263Profs*8 (c.787dupC); Zygosity=Homozygous (PubMed=36521382).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C148259; Joubert syndrome 3
DI   ORDO; Orphanet_220493; Joubert syndrome with ocular defect
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36521382; DOI=10.1016/j.scr.2022.103002;
RA   Serpieri V., Orsi A., Mazzotta C., Cavan S., Rossi E., Scelsa B.,
RA   Valente E.M.;
RT   "Generation of an iPSC line from skin fibroblasts of a patient with
RT   Joubert syndrome carrying the homozygous loss of function variant
RT   c.787dupC in the AHI1 gene.";
RL   Stem Cell Res. 66:103002-103002(2023).
//