Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene
Mutations in the NPHS2 gene, encoding podocin, are responsible for the majority of familial cases of steroid-resistant nephrotic syndrome (SRNS), a rare glomerulopathy that rapidly progresses to end-stage renal disease. We obtained peripheral blood mononuclear cells (PBMCs) from a patient carrying t...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-07-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120301793 |
| _version_ | 1818248579142123520 |
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| author | Giulia Menara Nathalie Lefort Corinne Antignac Géraldine Mollet |
| author_facet | Giulia Menara Nathalie Lefort Corinne Antignac Géraldine Mollet |
| author_sort | Giulia Menara |
| collection | DOAJ |
| description | Mutations in the NPHS2 gene, encoding podocin, are responsible for the majority of familial cases of steroid-resistant nephrotic syndrome (SRNS), a rare glomerulopathy that rapidly progresses to end-stage renal disease. We obtained peripheral blood mononuclear cells (PBMCs) from a patient carrying the homozygous c.413G>A substitution (p.R138Q) in NPHS2 gene, which is the most prevalent mutation in the European population. The PBMCs were reprogrammed by non-integrative viral transduction of the Yamanaka’s factors. The resulting iPSCs display normal karyotype, express pluripotency hallmarks and are capable of multilineage differentiation, offering a useful tool to study pathological mechanisms of SRNS and perform drug testing. |
| first_indexed | 2024-12-12T15:22:50Z |
| format | Article |
| id | doaj.art-50baf50146cd4d7fbec34984281c07cb |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-12T15:22:50Z |
| publishDate | 2020-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-50baf50146cd4d7fbec34984281c07cb2022-12-22T00:20:19ZengElsevierStem Cell Research1873-50612020-07-0146101878Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 geneGiulia Menara0Nathalie Lefort1Corinne Antignac2Géraldine Mollet3Université de Paris, Imagine Institute, Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris, FranceiPS Core Facility, Université de Paris, Imagine Institute, INSERM UMR U1163, Paris, France; Corresponding authors.Université de Paris, Imagine Institute, Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris, France; Département de Génétique, AP-HP, Hôpital Necker-Enfants Malades, Paris, FranceUniversité de Paris, Imagine Institute, Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris, France; Corresponding authors.Mutations in the NPHS2 gene, encoding podocin, are responsible for the majority of familial cases of steroid-resistant nephrotic syndrome (SRNS), a rare glomerulopathy that rapidly progresses to end-stage renal disease. We obtained peripheral blood mononuclear cells (PBMCs) from a patient carrying the homozygous c.413G>A substitution (p.R138Q) in NPHS2 gene, which is the most prevalent mutation in the European population. The PBMCs were reprogrammed by non-integrative viral transduction of the Yamanaka’s factors. The resulting iPSCs display normal karyotype, express pluripotency hallmarks and are capable of multilineage differentiation, offering a useful tool to study pathological mechanisms of SRNS and perform drug testing.http://www.sciencedirect.com/science/article/pii/S1873506120301793 |
| spellingShingle | Giulia Menara Nathalie Lefort Corinne Antignac Géraldine Mollet Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene Stem Cell Research |
| title | Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene |
| title_full | Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene |
| title_fullStr | Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene |
| title_full_unstemmed | Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene |
| title_short | Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene |
| title_sort | generation of an induced pluripotent stem cell ipsc line imagini007 from a patient with steroid resistant nephrotic syndrome carrying the homozygous p r138q mutation in the podocin encoding nphs2 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120301793 |
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