ID   ZZUi018-A
AC   CVCL_YM36
SY   ZZUi0018-A; ZZU-iPS-SCA6-002
DR   BioSamples; SAMEA6551739
DR   hPSCreg; ZZUi018-A
DR   SKIP; SKIP005738
DR   Wikidata; Q98136695
RX   PubMed=32229428;
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[14] (PubMed=32229428).
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   Male
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32229428; DOI=10.1016/j.scr.2020.101777;
RA   Yang T., Qin J., Zhang Q., Sun H.-F., Wang Z.-Y., Yang J., Liu H.,
RA   Zhang C., Zhang S.-T., Zhang J., Wang Y.-L., Xu Y.-M.;
RT   "Generation of induced pluripotent stem cell line (ZZUi0018-A) from a
RT   patient with spinocerebellar ataxia type 6.";
RL   Stem Cell Res. 44:101777-101777(2020).
//