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Cellosaurus WMUi031-A (CVCL_A7KS)

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Cell line name WMUi031-A
Synonyms LS-UiPSC
Accession CVCL_A7KS
Resource Identification Initiative To cite this cell line use: WMUi031-A (RRID:CVCL_A7KS)
Comments From: Wenzhou Medical University; Wenzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:8108; OCRL; Simple; p.Met876Asnfs (c.2626dupA); Zygosity=Hemizygous (PubMed=33765594).
Disease Oculocerebrorenal syndrome (NCIt: C84940)
Oculocerebrorenal syndrome of Lowe (ORDO: Orphanet_534)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=33765594; DOI=10.1016/j.scr.2021.102294
Reng-Cheng Qian, Long Wang, Hui-Hui Chen, Yin-Juan Ding, De-Xuan Wang, Cong-De Chen, Mao-Ping Chu, Xiao-Ou Shan, Xiao-Ling Guo;
Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA).
Stem Cell Res. 53:102294-102294(2021)

Cross-references
Cell line databases/resources hPSCreg; WMUi031-A
Encyclopedic resources Wikidata; Q107117486
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5