ID   H196 C7 GC
AC   CVCL_DQ63
SY   H196 c7 GC; H196 clone7 GC; H196 clone 7 GC
DR   Wikidata; Q54871979
RX   PubMed=27345804;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion_corrected; p.Gln166[36] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=By CRISPR/Cas9. The original 36 CAG repeat has been replaced with a 22 CAG repeat (PubMed=27345804).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C148315; Spinocerebellar ataxia type 2
DI   ORDO; Orphanet_98756; Spinocerebellar ataxia type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_AB81 ! H196 C7
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 14
//
RX   PubMed=27345804; DOI=10.1016/j.scr.2015.12.031;
RA   Marthaler A.G., Schmid B., Tubsuwan A., Poulsen U.B.,
RA   Engelbrecht A.F., Mau-Holzmann U.A., Hyttel P., Nielsen J.E.,
RA   Nielsen T.T., Holst B.;
RT   "Generation of an isogenic, gene-corrected control cell line of the
RT   spinocerebellar ataxia type 2 patient-derived iPSC line H196.";
RL   Stem Cell Res. 16:162-165(2016).
//