ID   ICGi015-A
AC   CVCL_XY44
SY   m6.6
DR   BioSamples; SAMEA6098039
DR   hPSCreg; ICGi015-A
DR   SKIP; SKIP005585
DR   Wikidata; Q94313448
RX   PubMed=31733442;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:30213; ATP13A2; Simple; p.Pro1172Pro (c.3516G>A) (p.Ala1072Thr, c.3214G>A); ClinVar=VCV000128475; Zygosity=Heterozygous (PubMed=31733442).
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Ala419Val (c.1256C>T); ClinVar=VCV000039131; Zygosity=Heterozygous (PubMed=31733442).
CC   Sequence variation: Mutation; HGNC; HGNC:14581; PINK1; Simple; p.Met318Leu (c.952A>T); ClinVar=VCV000447942; Zygosity=Heterozygous (PubMed=31733442).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XY45 ! ICGi015-B
SX   Female
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=31733442; DOI=10.1016/j.scr.2019.101652;
RA   Sharipova, Dinara V.
RA   Kovalenko, Victoria R.
RA   Bairamova, Elvira M.
RA   Vartanova, Valeriia A.
RA   Grigor'eva, Elena V.
RA   Vyatkin, Yuri V.
RA   Khabarova, Elena A.
RA   Rzaev, Jamil A.
RA   Zakian, Suren Minasovich
RA   Medvedev, Sergey P.
RT   "Generation of two iPSC lines, (ICGi015-A and ICGi015-B), by
RT   reprogramming peripheral blood mononuclear cells from a patient with
RT   Parkinson's disease.";
RL   Stem Cell Res. 41:101652-101652(2019).
//