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Cellosaurus NCKDi003-A (CVCL_B3MT)

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Cell line name NCKDi003-A
Accession CVCL_B3MT
Resource Identification Initiative To cite this cell line use: NCKDi003-A (RRID:CVCL_B3MT)
Comments From: National Center of Kidney Diseases; Nanjing; China.
Population: Chinese; Han.
Caution: Mutation indicated as hemizygous in title of PubMed=34547705 but this cell line is from a normal X,X female patient so it can't be hemizygous.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2023; CLCN5; Simple; p.Thr347Pro (c.1042A>C) (p.Thr277Pro, c.829A>C); Zygosity=Unspecified (PubMed=34547705).
Disease Dent disease (NCIt: C123260)
Dent disease type 1 (ORDO: Orphanet_93622)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=34547705; DOI=10.1016/j.scr.2021.102538
Li-Dan Hu, Gang Wang, Hang-Di Wu, Hai-Dong Fu, Yan Wang, Fan Yu, Zhi-Hong Liu, Jian-Hua Mao;
Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene.
Stem Cell Res. 56:102538-102538(2021)

Cross-references
Cell line databases/resources hPSCreg; NCKDi003-A
Encyclopedic resources Wikidata; Q110433092
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5