ID   CSSi004-A
AC   CVCL_VD31
SY   CSSi004-A (2962); 2962; HD256.05 cl1
DR   BioSamples; SAMEA104622926
DR   hPSCreg; CSSi004-A
DR   SKIP; SKIP003160
DR   Wikidata; Q54814682
RX   PubMed=29486399;
CC   From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[43] (c.52CAG(43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=29486399).
CC   Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29486399; DOI=10.1016/j.scr.2018.02.014;
RA   Bidollari E., Rotundo G., Ferrari D., Candido O., Bernardini L.,
RA   Consoli F., De Luca A., Santimone I., Lamorte G., Ilari A.,
RA   Squitieri F., Vescovi A.L., Rosati J.;
RT   "Generation of induced pluripotent stem cell line, CSSi004-A (2962),
RT   from a patient diagnosed with Huntington's disease at the
RT   presymptomatic stage.";
RL   Stem Cell Res. 28:145-148(2018).
//