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 |
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| Journal | Stem cell research |
| Publication Date | 2019 Apr;36:101406 |
| PubMed | 30849633 |
| DOI | 10.1016/j.scr.2019.101406 |