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
| Autor: | Haidong Fu, Gang Wang, Jianhua Mao, Fan Yu, Zhihong Liu, Lidan Hu, Hangdi Wu, Yan Wang |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Dent Disease
Hemizygote Mutation QH301-705.5 Induced Pluripotent Stem Cells Cell Biology General Medicine Biology medicine.disease_cause medicine.disease Peripheral blood mononuclear cell Molecular biology Pathogenesis Chloride Channels medicine Leukocytes Mononuclear Humans Hypercalciuria Biology (General) Induced pluripotent stem cell Developmental Biology Kidney disease |
| Zdroj: | Stem Cell Research, Vol 56, Iss, Pp 102538-(2021) |
| ISSN: | 1873-5061 |
| Popis: | Dent disease (DD) is a rare X-linked proximal tubulopathy associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and phosphoruria, which may progress to chronic kidney disease (CKD). About 60% of cases are caused by the mutation in CLCN5 gene. Recently, we identified a mutation in the sequence of homodimer of CLCN5 gene in a patient with DD. The Peripheral Blood Mononuclear Cells (PBMCs) of the patient were obtained and a line of induced pluripotent stem cells (iPSCs) was successfully generated. The iPSC line will be useful for further study of the pathogenesis and drug screening for DD. |
| Databáze: | OpenAIRE |
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