ID   LUMCi052-C
AC   CVCL_D6SL
SY   Lu052i#3
DR   BioSamples; SAMEA115402354
DR   hPSCreg; LUMCi052-C
RX   PubMed=38851031;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10560; ATXN7; Repeat_expansion; CAG[60] (g.53130CAG[(38_130)]); ClinVar=VCV000562100; Zygosity=Heterozygous; Note=The other allele has 10 repeats (PubMed=38851031).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Erythroblast; CL=CL_0000765.
DI   NCIt; C126562; Spinocerebellar ataxia type 7
DI   ORDO; Orphanet_94147; Spinocerebellar ataxia type 7
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6SJ ! LUMCi052-A
OI   CVCL_D6SK ! LUMCi052-B
SX   Female
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=38851031; DOI=10.1016/j.scr.2024.103462;
RA   Bouwman L.F., Joosen M.E.M., Buijsen R.A.M., van der Graaf L.M.,
RA   Pepers B.A., Voesenek B.J.B., Brosens E., van de Warrenburg B.P.C.,
RA   van Roon-Mom W.M.C.;
RT   "Generation of human induced pluripotent stem cell lines (LUMCi051-A,B
RT   and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type
RT   7.";
RL   Stem Cell Res. 78:103462-103462(2024).
//