ID   CSSi002-A
AC   CVCL_RV19
SY   CSSi002-A (2851); 2851; HD8yrs; HD 8 yrs
DR   BioSamples; SAMEA104620790
DR   hPSCreg; CSSi002-A
DR   SKIP; SKIP002977
DR   Wikidata; Q54814680
RX   PubMed=29342448;
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[~84] (c.52CAG(~84)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=29342448).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C147072; Juvenile Huntington disease
DI   ORDO; Orphanet_248111; Juvenile Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 17-03-22; Version: 8
//
RX   PubMed=29342448; DOI=10.1016/j.scr.2018.01.011;
RA   Rosati J., Bidollari E., Rotundo G., Ferrari D., Torres B.,
RA   Bernardini L., Consoli F., De Luca A., Santimone I., Lamorte G.,
RA   Squitieri F., Vescovi A.L.;
RT   "Generation of induced pluripotent stem cell line, CSSi002-A (2851),
RT   from a patient with juvenile Huntington disease.";
RL   Stem Cell Res. 27:86-89(2018).
//