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Article

Generation of CRISPR/Cas9-edited human iPSC lines carrying homozygous and heterozygous SAMD9 p.I983S mutations.

Stem cell research - 1 Dec 2024

Khiami Majd, Ju Yan, Han Lei, Klein Jonathan, Han Min-Joon, Pruett-Miller Shondra M, Wlodarski Marcin W

Abstract excerpt

Induced pluripotent stem cells (iPSCs) harboring patient derived SAMD9 mutation offer a unique platform to study the multi-organ involvement observed in this rare disease, referred to as myelodysplasia, infections, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome. The pluripotent nature of iPSCs allows in vitro differentiation into various somatic cell types...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39276527
DOI: 10.1016/j.scr.2024.103532

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

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