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Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C T) in the CLCN5 gene
- Source :
- Stem Cell Research, Vol 51, Iss, Pp 102209-(2021)
- Publication Year :
- 2020
-
Abstract
- The gene mutations of the chloride channel gene (CLCN5) can lead to the inherited X-linked Dent disease (X-Dent). The urine cells of a 4-year-old male X-Dent patient with the hemizygous CLCN5 gene mutation p.R718* (c.2152C > T) were reprogrammed into induced pluripotent stem cells (iPSCs) using integration free Sendai virus reprogramming system. The generated iPSCs stably expressed pluripotent stem cell markers and can be induced to differentiate into three germ layers in vitro. The karyotype of the generated iPSCs was normal (46, XY).
- Subjects :
- Male
Induced Pluripotent Stem Cells
Dent Disease
Gene mutation
medicine.disease_cause
Sendai virus
medicine
Humans
Induced pluripotent stem cell
lcsh:QH301-705.5
Gene
Hemizygote
Mutation
biology
CLCN5
Cell Biology
General Medicine
Molecular biology
lcsh:Biology (General)
Child, Preschool
biology.protein
Reprogramming
Developmental Biology
Subjects
Details
- ISSN :
- 18767753
- Volume :
- 51
- Database :
- OpenAIRE
- Journal :
- Stem cell research
- Accession number :
- edsair.doi.dedup.....9b0d35a04a3900309c8119de27daa30b