ID   CSSi007-A
AC   CVCL_WK21
SY   CSSi007-A (4383); Joub07 cl1; COR11-NG708
DR   BioSamples; SAMEA5359104
DR   hPSCreg; CSSi007-A
DR   Wikidata; Q93459733
RX   PubMed=31202121;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 21575; AHI1; Simple; p.Arg723Gln (c.2168G>A); ClinVar=VCV000002015; Zygosity=Homozygous (PubMed=31202121).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C159653; Joubert syndrome 7
DI   ORDO; Orphanet_220497; Joubert syndrome with renal defect
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31202121; DOI=10.1016/j.scr.2019.101480;
RA   Altieri F., D'Anzi A., Martello F., Tardivo S., Spasari I.,
RA   Ferrari D., Bernardini L., Lamorte G., Mazzoccoli G., Valente E.M.,
RA   Vescovi A.L., Rosati J.;
RT   "Production and characterization of human induced pluripotent stem
RT   cells (iPSC) CSSi007-A (4383) from Joubert syndrome.";
RL   Stem Cell Res. 38:101480-101480(2019).
//