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Cellosaurus WMUi019-A (CVCL_A4YA)

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Cell line name WMUi019-A
Synonyms BS-UiPSCs
Accession CVCL_A4YA
Resource Identification Initiative To cite this cell line use: WMUi019-A (RRID:CVCL_A4YA)
Comments From: Wenzhou Medical University; Wenzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:10910; SLC12A1; Simple; p.Ala244Asp (c.731C>A); Zygosity=Homozygous (PubMed=33607471).
Disease Bartter syndrome, type 1 (NCIt: C178412)
Bartter syndrome type 1 (ORDO: Orphanet_620217)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=33607471; DOI=10.1016/j.scr.2021.102228
Wei-Ping Ji, De-Xuan Wang, Cong-De Chen, Hui-Hui Chen, Yin-Juan Ding, Chao Li, Xing Rong, Xiao-Ou Shan, Mao-Ping Chu, Xian Shen, Xiao-Ling Guo;
Generation of an induced pluripotent stem cell line from a Bartter syndrome patient with the homozygote mutation p.A244D (c.731C>A) in SLC12A1 gene.
Stem Cell Res. 52:102228-102228(2021)

Cross-references
Cell line databases/resources hPSCreg; WMUi019-A
Encyclopedic resources Wikidata; Q107117481
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6