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Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A).
Ahmad, Istaq; Kamai, Asangla; Zahra, Sana; Kapoor, Himanshi; Kumar Srivastava, Achal; Faruq, Mohammed.
Afiliación
  • Ahmad I; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi 110007, India; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
  • Kamai A; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi 110007, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
  • Zahra S; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi 110007, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
  • Kapoor H; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi 110007, India.
  • Kumar Srivastava A; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
  • Faruq M; Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi 110007, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India; Division of Investigations of Human Pathology by Application Genomics and Stem Cells (iHPSCs-AG), I
Stem Cell Res ; 77: 103382, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38484450
ABSTRACT
Friedreich's ataxia is a spinocerebellar degenerative disease caused by microsatellite (GAA.TTC)n repeat expansion in the first intron of FXN gene. Here, we developed iPSC lines from an FRDA patient (IGIBi016-A) and non-FRDA healthy control (IGIBi017-A). Both iPSC lines displayed typical iPSC morphology, expression of pluripotency markers, regular karyotypes (46, XY; 46, XX), capacity to grow into three germ layers, and FRDA hallmark -GAA repeat expansion and decreased FXN mRNA. Through these iPSC lines, FRDA phenotypes may be replicated in the in vitro assays, by creating neuron subtypes, cardiomyocytes and 3D organoids, for molecular and cellular biomarkers and therapeutic applications.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia de Friedreich / Proteínas de Unión a Hierro / Células Madre Pluripotentes Inducidas / Frataxina Límite: Female / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia de Friedreich / Proteínas de Unión a Hierro / Células Madre Pluripotentes Inducidas / Frataxina Límite: Female / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido