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Cellosaurus ZJUi005-A (CVCL_ZE47)

[Text version]
Cell line name ZJUi005-A
Synonyms ZJU-iPS-PMD-PLP1-001
Accession CVCL_ZE47
Resource Identification Initiative To cite this cell line use: ZJUi005-A (RRID:CVCL_ZE47)
Comments From: Women's Hospital, Zhejiang University School of Medicine; Hangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9086; PLP1; Simple; p.Leu146Pro (c.437T>C); Zygosity=Hemizygous (PubMed=32402715).
Disease Pelizaeus-Merzbacher disease (NCIt: C75487)
Pelizaeus-Merzbacher disease (ORDO: Orphanet_702)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 18Y
Category Induced pluripotent stem cell
Publications

PubMed=32402715; DOI=10.1016/j.scr.2020.101791
Liu B., Chen L., Sun J., Zhang L., Chen M., Qian Y.-Q., Wang Y.-L., Yan K., Hou L.-X., Huang Y.-Z., Zhang D., Xu Y.-M., Yu J.-L., Zhang J., Dong M.-Y.
Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene.
Stem Cell Res. 45:101791-101791(2020)

Cross-references
Cell line databases/resources hPSCreg; ZJUi005-A
SKIP; SKIP005797
Encyclopedic resources Wikidata; Q98136564
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number6