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

Publication date: Available online 12 February 2019Source: Stem Cell ResearchAuthor(s): Mika Suga, Takayuki Kondo, Keiko Imamura, Ran Shibukawa, Yasue Okanishi, Yukako Sagara, Kayoko Tsukita, Takako Enami, Mahoko Furujo, Kaoru Saijo, Yukio Nakamura, Mitsujiro Osawa, Megumu K. Saito, Shinya Yamanaka, Haruhisa InoueAbstractMucopolysaccharidosis type I (MPS I) is a rare inherited metabolic disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal protein encoded by the 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 used as an in vitro model of MPS I for research.
Source: Stem Cell Research - Category: Stem Cells Source Type: research