ID   UNIFEi001-A
AC   CVCL_E6MA
SY   iPSca1N1; MARPiPSCA1N1; UniFei001-A
DR   BioSamples; SAMEA116085258
DR   hPSCreg; UNIFEi001-A
RX   PubMed=39892158;
CC   From: University of Ferrara; Ferrara; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10548; ATXN1; Repeat_expansion; CAG[60]; Zygosity=Heterozygous (PubMed=39892158).
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)
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=39892158; DOI=10.1016/j.scr.2024.103637;
RA   Pappada M., Melija S., Facchini M., Martino M., Minarini S., Caproni A.,
RA   Nordi C., Rimessi P., Selvatici R., Marconi P.C.R.;
RT   "Generation of a human induced pluripotent stem cell line
RT   (UNIFEi001-A) from a patient with spinocerebellar ataxia type 1
RT   (SCA1).";
RL   Stem Cell Res. 83:103637-103637(2025).
//