ID   SCD166-2-16
AC   CVCL_RJ09
DR   SKIP; SKIP001270
DR   Wikidata; Q54952409
RX   PubMed=27806289;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Repeat_expansion; p.Gln2313[26] (c.6937CAG[26]) (c.6937CAG[(21_30)]); ClinVar=VCV000562099; Zygosity=Heterozygous; Note=The non-expanded allele has p.Gln2313[14] (PubMed=27806289).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
OI   CVCL_RJ07 ! SCD166-2-3
OI   CVCL_RJ08 ! SCD166-2-14
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=27806289; DOI=10.1016/j.celrep.2016.10.026;
RA   Ishida Y., Kawakami H., Kitajima H., Nishiyama A., Sasai Y., Inoue H.,
RA   Muguruma K.;
RT   "Vulnerability of Purkinje cells generated from spinocerebellar ataxia
RT   type 6 patient-derived iPSCs.";
RL   Cell Rep. 17:1482-1490(2016).
//