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Cellosaurus WMUi017-A (CVCL_A4XX)

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Cell line name WMUi017-A
Synonyms X-RSY-UiPSC
Accession CVCL_A4XX
Resource Identification Initiative To cite this cell line use: WMUi017-A (RRID:CVCL_A4XX)
Comments From: Wenzhou Medical University; Wenzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:9330; PQBP1; Simple; p.Pro609Ala (c.1825C>G); Zygosity=Hemizygous (PubMed=33477035).
Disease Renpenning syndrome (NCIt: C165533)
Renpenning syndrome (ORDO: Orphanet_3242)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=33477035; DOI=10.1016/j.scr.2021.102159
Xiao-Ling Guo, Xu-Fei Zhang, Lin-Lin Wang, Ling-Yun He, Yin-Juan Ding, Hui-Hui Chen, De-Xuan Wang, Xing Rong, Xian Shen, Jian Lin, Mao-Ping Chu;
Generation of an urine-derived induced pluripotent stem cell line WMUi017-A from a X-linked Renpenning syndrome (X-RSY) patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G).
Stem Cell Res. 51:102159-102159(2021)

Cross-references
Cell line databases/resources hPSCreg; WMUi017-A
Encyclopedic resources Wikidata; Q107117478
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5