ID   HIHCNi002-A
AC   CVCL_VL41
SY   iPSC-SCA3
DR   hPSCreg; HIHCNi002-A
DR   Wikidata; Q94208294
RX   PubMed=29936336;
CC   From: Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[73]; Zygosity=Heterozygous; Note=The other allele has 24 repeats (PubMed=29936336).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84830; Spinocerebellar ataxia type 3
DI   ORDO; Orphanet_98757; Spinocerebellar ataxia type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29936336; DOI=10.1016/j.scr.2018.06.006;
RA   Hayer S.N., Schelling Y., Huebener-Schmid J., Weber J.J., Hauser S.,
RA   Schols L.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A.";
RL   Stem Cell Res. 30:171-174(2018).
//