ID   CSSi008-A
AC   CVCL_WK22
SY   CSSi008-A (4698); 4698; AT214-01-02
DR   BioSamples; SAMEA5728485
DR   hPSCreg; CSSi008-A
DR   Wikidata; Q93459735
RX   PubMed=31493762;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3033; ATN1; Repeat_expansion; CAG[65] (g.17267CAG[(54-68)]); ClinVar=VCV000590267; Zygosity=Heterozygous; Note=The non-expanded allele has CAG[13] (PubMed=31493762).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C122653; Dentatorubral-pallidoluysian atrophy
DI   ORDO; Orphanet_101; Dentatorubral pallidoluysian atrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31493762; DOI=10.1016/j.scr.2019.101551;
RA   Bidollari E., Rotundo G., Altieri F., Amicucci M., Wiquel D.,
RA   Ferrari D., Goldoni M., Bernardini L., Consoli F., De Luca A.,
RA   Fanelli S., Lamorte G., D'Agruma L., Vescovi A.L., Squitieri F.,
RA   Rosati J.;
RT   "Generation of induced pluripotent stem cell line CSSi008-A (4698)
RT   from a patient affected by advanced stage of
RT   Dentato-Rubral-Pallidoluysian atrophy (DRPLA).";
RL   Stem Cell Res. 40:101551-101551(2019).
//