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Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation.

Stem cell research - 1 Apr 2024

Guan Jingyun, Shen Li, Liu Chen, Lv Yuqiang, Zhang Haiyan, Liu Yi, Gai Zhongtao

Abstract excerpt

The induced pluripotent stem cells (iPSCs) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with compound heterozygous mutation of c.2374A > G/p.M792V and c.3949C > T/p.R1317W in the CPS1 gene by non-integrating vectors. The expression of pluripotency markers, potential for in vitro trilineage differentiation and exhibiting normal karyotype were demonstrated in the SDQLCHi061-A...

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Identifiers

PMID: 38394969
DOI: 10.1016/j.scr.2024.103353

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation.PMID 38394969Read ↗

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