ID   ZZUi017-A
AC   CVCL_YB84
SY   ZZUi0017-A; ZZU-iPS-SCA6-001
DR   BioSamples; SAMEA6162960
DR   hPSCreg; ZZUi017-A
DR   SKIP; SKIP005817
DR   Wikidata; Q98136691
RX   PubMed=32791484;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 1388; CACNA1A; Repeat_expansion; p.Gln2313[25] (c.6937CAG[25]) (c.6937CAG[(21_30)]); ClinVar=VCV000562099; Zygosity=Heterozygous; Note=The non-expanded allele has p.Gln2313[13] (PubMed=32791484).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142838; Spinocerebellar ataxia type 6
DI   ORDO; Orphanet_98758; Spinocerebellar ataxia type 6
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=32791484; DOI=10.1016/j.scr.2020.101946;
RA   Yang J., Liu H., Sun H.-F., Wang Z.-Y., Zhang R., Liu Y.-T., Zhang Q.,
RA   Zhang S.-T., Zhang J., Shi C.-H., Wang Y.-L., Xu Y.-M.;
RT   "Construction of induced pluripotent stem cell line (ZZUi0017-A) from
RT   the fibroblast cells of a female patient with CACNA1A mutation by
RT   unintegrated reprogramming approach.";
RL   Stem Cell Res. 48:101946-101946(2020).
//