ID   ZZUi027-A
AC   CVCL_A5GT
SY   ZZU-iPS-RAB39B-002; ZZU-iPS-PD-RAB39b-002
DR   BioSamples; SAMEA8152173
DR   hPSCreg; ZZUi027-A
DR   Wikidata; Q107117580
RX   PubMed=34247111;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 16499; RAB39B; Simple; p.Glu179fs*48 (c.536dupA); Zygosity=Hemizygous (PubMed=34247111).
CC   Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C184991; Waisman syndrome
DI   ORDO; Orphanet_2379; Early-onset parkinsonism-intellectual disability syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34247111; DOI=10.1016/j.scr.2021.102454;
RA   Sun H.-F., Wang Z.-Y., Zhang Q., Liu Y.-T., Yang J., Liu H.,
RA   Shi C.-H., Wang Y.-L., Xu Y.-M.;
RT   "Generation of induced pluripotent stem cell line (ZZUi027-A) derived
RT   from skin fibroblasts from a Parkinson's disease patient with RAB39B
RT   gene mutation.";
RL   Stem Cell Res. 55:102454-102454(2021).
//