ID   UNIBSi016-C
AC   CVCL_A0KS
SY   JS_CG_C17
DR   hPSCreg; UNIBSi016-C
DR   Wikidata; Q108821463
RX   PubMed=34182252;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 29253; CC2D2A; Simple; p.Glu1000Val (c.2999A>T); ClinVar=VCV000217604; Zygosity=Heterozygous (PubMed=34182252).
CC   Sequence variation: Mutation; HGNC; 29253; CC2D2A; Simple; p.Gly1213Alafs*7 (c.3638delG); Zygosity=Heterozygous (PubMed=34182252).
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C181002; Joubert syndrome 9
DI   ORDO; Orphanet_475; Joubert syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_A0KQ ! UNIBSi016-A
OI   CVCL_A0KR ! UNIBSi016-B
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 17-03-22; Version: 3
//
RX   PubMed=34182252; DOI=10.1016/j.scr.2021.102430;
RA   Ali E., Ferraro R.M., Guglielmi A., Lanzi G., Masneri S., Piovani G.,
RA   Mazzoldi E.L., Pollara L., Valente E.M., Accorsi P., Giordano L.,
RA   Giliani S.C.;
RT   "Establishment of three Joubert syndrome-derived induced pluripotent
RT   stem cell (iPSC) lines harbouring compound heterozygous mutations in
RT   CC2D2A gene.";
RL   Stem Cell Res. 54:102430-102430(2021).
//