Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I

Summary

Mucopolysaccharidosis type I (MPS I) is a rare inherited metabolic disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal protein encoded by IDUA gene. MPS I is a progressive multisystemic disorder with a wide range of symptoms, including skeletal abnormalities and cognitive impairment, and is characterized by a wide spectrum of severity levels caused by varied mutations in IDUA. A human iPSC line was established from an attenuated MPS I (Scheie syndrome) patient carrying an IDUA gene mutation (c.266G > A; p.R89Q). This disease-specific iPSC line will be useful for the research of MPS I. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Suga M, Kondo T, Imamura K, Shibukawa R, Okanishi Y, Sagara Y, Tsukita K, Enami T, Furujo M, Saijo K, Nakamura Y, Osawa M, Saito MK, Yamanaka S, Inoue H
Journal Stem cell research
Publication Date 2019 Apr;36:101406
PubMed 30849633
DOI 10.1016/j.scr.2019.101406

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