ID   CENSOi051-A
AC   CVCL_WP60
SY   F246c1
DR   hPSCreg; CENSOi051-A
DR   Wikidata; Q93446812
CC   From: Axol Bioscience, Ltd (Censo Biotechnologies); Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion; p.Gln166[~36] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=The other allele has ~22 repeats (from autologous cell line CENSOi051-B).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C148315; Spinocerebellar ataxia type 2
DI   ORDO; Orphanet_98756; Spinocerebellar ataxia type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YC22 ! CENSOi051-B
SX   Male
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 10-04-25; Version: 7
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