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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.
Afiliação
  • 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 em 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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia de Friedreich / Proteínas de Ligação ao Ferro / Células-Tronco Pluripotentes Induzidas / Frataxina Limite: Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia de Friedreich / Proteínas de Ligação ao Ferro / Células-Tronco Pluripotentes Induzidas / Frataxina Limite: Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article