ID   CSSi006-A
AC   CVCL_VD33
SY   CSSi006-A (3681); 3681
DR   BioSamples; SAMEA4675569
DR   hPSCreg; CSSi006-A
DR   Wikidata; Q54814684
RX   PubMed=29704769;
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[65] (c.52CAG(65)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=29704769).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C147072; Juvenile Huntington disease
DI   ORDO; Orphanet_248111; Juvenile Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=29704769; DOI=10.1016/j.scr.2018.04.008;
RA   Rotundo G., Bidollari E., Ferrari D., Spasari I., Bernardini L.,
RA   Consoli F., De Luca A., Santimone I., Lamorte G., Migliore S.,
RA   Squitieri F., Vescovi A.L., Rosati J.;
RT   "Generation of the induced pluripotent stem cell line CSSi006-A (3681)
RT   from a patient affected by advanced-stage juvenile onset Huntington's
RT   disease.";
RL   Stem Cell Res. 29:174-178(2018).
//