ID   CSSi001-A
AC   CVCL_VD29
SY   CSSi001-A (2850); 2850; Joub03cl2; Joub03 cl2; COR419
DR   BioSamples; SAMEA104620766
DR   hPSCreg; CSSi001-A
DR   SKIP; SKIP002980
DR   Wikidata; Q54814679
RX   PubMed=29334628;
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.His896Arg (c.2687A>G); ClinVar=VCV000217532; Zygosity=Homozygous (PubMed=29334628).
CC   Derived from site: In situ; Skin, dermis; UBERON=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   40Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29334628; DOI=10.1016/j.scr.2018.01.012;
RA   Rosati J., Altieri F., Tardivo S., Turco E.M., Goldoni M., Spasari I.,
RA   Ferrari D., Bernardini L., Lamorte G., Valente E.M., Vescovi A.L.;
RT   "Production and characterization of human induced pluripotent stem
RT   cells (iPSCs) from Joubert syndrome: CSSi001-A (2850).";
RL   Stem Cell Res. 27:74-77(2018).
//