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Cellosaurus ZZUi005-A (CVCL_LE98)

[Text version]

Cell line name ZZUi005-A
Synonyms ZZU-iPS-PD-RAB39b-001
Accession CVCL_LE98
Resource Identification Initiative To cite this cell line use: ZZUi005-A (RRID:CVCL_LE98)
Comments From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
Population: Chinese; Han.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 16499; RAB39B; Simple; p.Glu179fs*48 (c.536dupA); Zygosity=Hemizygous (PubMed=29128816).
Disease Waisman syndrome (NCIt: C184991)
Early-onset parkinsonism-intellectual disability syndrome (ORDO: Orphanet_2379)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 21Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29128816

Markers:
AmelogeninX,Y
CSF1PO10,12
D5S81811,12
D7S82010,11
D13S31710,11
D16S53912,13
D21S1129
TH019
TPOX8,9
vWA16,19

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Publications

PubMed=29128816; DOI=10.1016/j.scr.2017.10.021
Wang Y.-L., Sun H.-F., Wang Z.-L., Yang Z.-H., Shi M.-M., Yang J., Liu Y.-T., Liu H., Zhang S., Shi C.-H., Xu Y.-M.
Generation of induced pluripotent stem cell line (ZZUi005-A) from a 21-year-old patient with a novel RAB39B gene mutation in X-linked juvenile parkinsonism.
Stem Cell Res. 25:132-135(2017)

Cross-references
Cell line databases/resources hPSCreg; ZZUi005-A
Biological sample resources BioSamples; SAMEA104388410
Encyclopedic resources Wikidata; Q53996684
Entry history
Entry creation22-Aug-2017
Last entry update16-Dec-2021
Version number9