ID   LUMCi002-B
AC   CVCL_VE43
SY   LUMC0113iATAX07; 113-7
DR   BioSamples; SAMEA6456116
DR   hPSCreg; LUMCi002-B
DR   SKIP; SKIP003232
DR   Wikidata; Q54903271
RX   PubMed=29656178;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10548; ATXN1; Repeat_expansion; CAG[46]; Zygosity=Heterozygous; Note=The other allele has 29 repeats (PubMed=29656178).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129982; Spinocerebellar ataxia type 1
DI   ORDO; Orphanet_98755; Spinocerebellar ataxia type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VE42 ! LUMCi002-A
OI   CVCL_VE44 ! LUMCi002-C
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29656178; DOI=10.1016/j.scr.2018.03.018;
RA   Buijsen R.A.M., Gardiner S.L., Bouma M.J., van der Graaf L.M.,
RA   Boogaard M.W., Pepers B.A., Eussen B., de Klein A., Freund C.M.A.H.,
RA   van Roon-Mom W.M.C.;
RT   "Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived
RT   induced pluripotent stem cell lines LUMCi002-A, B, and C and 2
RT   unaffected sibling control induced pluripotent stem cell lines
RT   LUMCi003-A and B.";
RL   Stem Cell Res. 29:125-128(2018).
//