ID   RCPCMi004-A
AC   CVCL_XY76
SY   Park14-4; IPS PARK14-4
DR   BioSamples; SAMEA6169988
DR   hPSCreg; RCPCMi004-A
DR   SKIP; SKIP005727
DR   Wikidata; Q98128876
RX   PubMed=32151951;
CC   From: Federal Research and Clinical Center of Physical-Chemical Medicine; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Unexplicit; Ex2del; Zygosity=Heterozygous (PubMed=32151951).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=32151951
ST   Amelogenin: X,Y
ST   CSF1PO: 10.3
ST   D10S1248: 14,15
ST   D12S391: 19.1
ST   D13S317: 11
ST   D16S539: 12
ST   D18S51: 15,16.1
ST   D1S1656: 14,15
ST   D21S11: 33.3
ST   D22S1045: 16
ST   D2S441: 10,14
ST   D3S1358: 14,15
ST   D5S818: 11,12
ST   D7S820: 8,11
ST   D8S1179: 13
ST   FGA: 19,21.2
ST   SE33: 22.2,29
ST   TH01: 9
ST   TPOX: 8,9
ST   vWA: 18,19
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32151951; DOI=10.1016/j.scr.2020.101733;
RA   Shuvalova L.D., Eremeev A.V., Bogomazova A.N., Novosadova E.V.,
RA   Zerkalenkova E.A., Olshanskaya Y.V., Fedotova E.Y., Glagoleva E.S.,
RA   Illarioshkin S.N., Lebedeva O.S., Lagarkova M.A.;
RT   "Generation of induced pluripotent stem cell line RCPCMi004-A derived
RT   from patient with Parkinson's disease with deletion of the exon 2 in
RT   PARK2 gene.";
RL   Stem Cell Res. 44:101733-101733(2020).
//