ID   NCBSi003-A
AC   CVCL_C1UV
SY   Park14-R741Q-2022
DR   BioSamples; SAMEA112281646
DR   hPSCreg; NCBSi003-A
DR   Wikidata; Q114312456
RX   PubMed=36706537;
CC   From: Tata Institute of Fundamental Research, National Centre for Biological Sciences; Bangalore; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:9039; PLA2G6; Simple; p.Arg741Gln (c.2222G>A); ClinVar=VCV000006203; Zygosity=Homozygous (PubMed=36706537).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=36706537
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 8,9
ST   D16S539: 11,13
ST   D21S11: 29,31.2
ST   D5S818: 10,13
ST   D7S820: 10,11
ST   TH01: 9
ST   TPOX: 8,9
ST   vWA: 16,17
DI   NCIt; C201519; Parkinson disease 14, autosomal recessive
DI   ORDO; Orphanet_199351; Adult-onset dystonia-parkinsonism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=36706537; DOI=10.1016/j.scr.2023.103033; PMCID=PMC7614486;
RA   Gopurappilly, Renjitha
RA   Musthafa, Thasneem
RA   Sukumaran, Salil
RA   Viswanath, Biju
RA   Hasan, Gaiti
RT   "Generation of feeder-independent transgene-free iPSC lines from a
RT   young-onset Parkinson's disease (YOPD) patient with a homozygous
RT   PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected
RT   heterozygous parent (NCBSi004-A).";
RL   Stem Cell Res. 67:103033-103033(2023).
//