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Cellosaurus WMUi032-A (CVCL_C0J8)

[Text version]
Cell line name WMUi032-A
Accession CVCL_C0J8
Resource Identification Initiative To cite this cell line use: WMUi032-A (RRID:CVCL_C0J8)
Comments From: Wenzhou Medical University; Wenzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12496; UBE3A; Simple; p.Asp583Gly (c.1748A>G) (p.Asp563Gly, c.1688A>G); ClinVar=VCV000160209; Zygosity=Heterozygous (PubMed=35489268).
Disease Angelman syndrome (NCIt: C75462)
Angelman syndrome due to a point mutation (ORDO: Orphanet_411511)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=35489268; DOI=10.1016/j.scr.2022.102791
Li S.-S., Zhu Q.-Y., Cai Y.-Y., Yang Q.
Generation of an induced pluripotent stem cell line from a patient with Angelman syndrome carrying UBE3A mutation.
Stem Cell Res. 62:102791-102791(2022)

Cross-references
Cell line databases/resources hPSCreg; WMUi032-A
Biological sample resources BioSamples; SAMEA13317175
Encyclopedic resources Wikidata; Q112930569
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5