Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations

Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease caused mainly by homozygous or compound heterozygous mutations in the PLA2G6 gene. We generated a human induced pluripotent stem cell (hiPSC) line (ONHi001-A) using fibroblasts derived from a patient with INAD. The patient ex...

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Bibliographic Details
Main Authors:	Hayato Fukusumi, Kazuyuki Togo, Goichi Beck, Tomoko Shofuda, Daisuke Kanematsu, Atsuyo Yamamoto, Miho Sumida, Kousuke Baba, Hideki Mochizuki, Yonehiro Kanemura
Format:	Article
Language:	English
Published:	Elsevier 2023-06-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506123001083

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