Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I
oleh: 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 Inoue
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2019-04-01 |
Deskripsi
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.