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Article

An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene.

Stem cell research - 1 Dec 2019

Zhang Haiyan, Ma Yanyan, Li Xiaomei, Yang Xiaomeng, Li Yue, Guan Jingyun, Dong Rui, Gai Zhongtao, Liu Yi

Abstract excerpt

The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG and c.632C>T) in BCKDHA gene. Non-integrating episomal vectors coding OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line...

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Identifiers

PMID: 31775088
DOI: 10.1016/j.scr.2019.101585

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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