ID   ZZUi005-A
AC   CVCL_LE98
SY   ZZU-iPS-PD-RAB39b-001
DR   BioSamples; SAMEA104388410
DR   hPSCreg; ZZUi005-A
DR   Wikidata; Q53996684
RX   PubMed=29128816;
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=29128816).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29128816
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 10,11
ST   D16S539: 12,13
ST   D21S11: 29
ST   D5S818: 11,12
ST   D7S820: 10,11
ST   TH01: 9
ST   TPOX: 8,9
ST   vWA: 16,19
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   21Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 29-06-23; Version: 11
//
RX   PubMed=29128816; DOI=10.1016/j.scr.2017.10.021;
RA   Wang Y.-L., Sun H.-F., Wang Z.-L., Yang Z.-H., Shi M.-M., Yang J.,
RA   Liu Y.-T., Liu H., Zhang S., Shi C.-H., Xu Y.-M.;
RT   "Generation of induced pluripotent stem cell line (ZZUi005-A) from a
RT   21-year-old patient with a novel RAB39B gene mutation in X-linked
RT   juvenile parkinsonism.";
RL   Stem Cell Res. 25:132-135(2017).
//