Generation of a human induced pluripotent stem cell line FMUPDCi001-A from a patient with mental retardation, autosomal recessive 36 (MRT36) carrying the variants c.219dupA and c.587C > T in ADAT3

Xiaoyu Hu; Shiyi Xiong; Xinyao Zhou; Luming Sun

doi:10.1016/j.scr.2022.102777

Generation of a human induced pluripotent stem cell line FMUPDCi001-A from a patient with mental retardation, autosomal recessive 36 (MRT36) carrying the variants c.219dupA and c.587C > T in ADAT3

Stem Cell Res. 2022 May:61:102777. doi: 10.1016/j.scr.2022.102777. Epub 2022 Apr 4.

Authors

Xiaoyu Hu¹, Shiyi Xiong¹, Xinyao Zhou¹, Luming Sun²

Affiliations

¹ Shanghai Key Laboratory of Maternal Fetal Medicine, Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai 200092, China.
² Shanghai Key Laboratory of Maternal Fetal Medicine, Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai 200092, China. Electronic address: luming_sun@163.com.

PMID: 35405382
DOI: 10.1016/j.scr.2022.102777

Abstract

We generated a human induced pluripotent stem cell (iPSC) line, FMUPDCi001-A, from peripheral blood mononuclear cells of a patient with mental retardation, autosomal recessive 36 (MRT36), and compound heterozygous c.219dupA and c.587C > T variants in ADAT3. This line will be a valuable resource for investigating disease mechanisms and testing gene therapies for MRT36.

MeSH terms

Humans
Induced Pluripotent Stem Cells* / metabolism
Intellectual Disability* / genetics
Intellectual Disability* / metabolism
Leukocytes, Mononuclear