ID   UNIBSi011-C
AC   CVCL_A1PX
SY   JS_MA_C10
DR   hPSCreg; UNIBSi011-C
DR   Wikidata; Q102115084
RX   PubMed=33010677;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:25801; CPLANE1; Simple; p.Ser1290Pro (c.3868T>C); Zygosity=Heterozygous (PubMed=33010677).
CC   Sequence variation: Mutation; HGNC; HGNC:25801; CPLANE1; Simple; p.Arg2493Ter (c.7477C>A); ClinVar=VCV000031223; Zygosity=Heterozygous (PubMed=33010677).
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)
OI   CVCL_A1PV ! UNIBSi011-A
OI   CVCL_A1PW ! UNIBSi011-B
SX   Female
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=33010677; DOI=10.1016/j.scr.2020.102007;
RA   Ali E., Ferraro R.M., Lanzi G., Masneri S., Piovani G., Mazzoldi E.L.,
RA   Serpieri V., Valente E.M., Giordano L., Giliani S.C.;
RT   "Generation of induced pluripotent stem cell (iPSC) lines from a
RT   Joubert syndrome patient with compound heterozygous mutations in
RT   C5orf42 gene.";
RL   Stem Cell Res. 49:102007-102007(2020).
//