ID   NIMHi015-A
AC   CVCL_D6J5
SY   PD06
DR   BioSamples; SAMEA115344211
DR   hPSCreg; NIMHi015-A
DR   Wikidata; Q127382963
RX   PubMed=38739971;
CC   From: National Institute of Mental Health and Neurosciences; Bengaluru; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Simple; c.(171+1_172-1)_(412+1_413-1)del (Ex2i-3i del); Zygosity=Homozygous (PubMed=38739971).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   21Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38739971; DOI=10.1016/j.scr.2024.103440;
RA   Banerjee R., Ghanty R., Jagtap S., Holla V., Kamble N., Yadav R.,
RA   Pal P.K., Datta I.;
RT   "Generation of induced pluripotent stem cells (NIMHi015-A) from a
RT   Parkinson's disease patient harbouring a homozygous exon 3 deletion
RT   in the PRKN gene.";
RL   Stem Cell Res. 77:103440-103440(2024).
//