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Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a.

Stem cell research - 1 Dec 2020

Katagami Yukimi, Kondo Takayuki, Suga Mika, Yada Yuichiro, Imamura Keiko, Shibukawa Ran, Sagara Yukako, Okanishi Yasue, Tsukita Kayoko, Hirayama Kenji, Era Takumi, Inoue Haruhisa

Abstract excerpt

Glycogen storage disease type 1a (GSD1a) is an autosomal recessive disorder caused by mutations of the glucose-6-phosphatase (G6PC) gene. Mutations of the G6PC gene lead to excessive accumulation of glycogen in the liver, kidney, and intestinal mucosa due to the deficiency of microsomal glucose-6-phosphatase. Human induced pluripotent stem cells (iPSCs) enable the production of patient-derived hepatocytes in...

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PMID: 33291009
DOI: 10.1016/j.scr.2020.102095

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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