Induced Pluripotent Stem Cells from a Spinal Muscular Atrophy Patient

Overview

Journal Nature

Specialty Science

Date 2008 Dec 23

PMID 19098894

Citations 666

Authors

Allison D Ebert

Junying Yu

Ferrill F Rose Jr

Virginia B Mattis

Christian L Lorson

James A Thomson

Clive N Svendsen

Affiliations

Soon will be listed here.

Abstract

Spinal muscular atrophy is one of the most common inherited forms of neurological disease leading to infant mortality. Patients have selective loss of lower motor neurons resulting in muscle weakness, paralysis and often death. Although patient fibroblasts have been used extensively to study spinal muscular atrophy, motor neurons have a unique anatomy and physiology which may underlie their vulnerability to the disease process. Here we report the generation of induced pluripotent stem cells from skin fibroblast samples taken from a child with spinal muscular atrophy. These cells expanded robustly in culture, maintained the disease genotype and generated motor neurons that showed selective deficits compared to those derived from the child's unaffected mother. This is the first study to show that human induced pluripotent stem cells can be used to model the specific pathology seen in a genetically inherited disease. As such, it represents a promising resource to study disease mechanisms, screen new drug compounds and develop new therapies.

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