Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient
نویسندگان
چکیده
To produce an in vitro model of nemaline myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) a patient with heterozygous p.Gly148Asp mutation exon 3 ACTA1 gene to iPSCs. Using CRISPR/Cas9 editing corrected generate isogenic control line. Both mutant and show normal karyotype, express pluripotency markers could differentiae into three cell states that represent embryonic germ layers (endoderm, mesoderm neuroectoderm) dermomyotome (precursor skeletal muscle). When differentiated these lines will be used explore disease mechanisms evaluate novel therapeutics.
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ژورنال
عنوان ژورنال: Stem Cell Research
سال: 2021
ISSN: ['1876-7753', '1873-5061']
DOI: https://doi.org/10.1016/j.scr.2021.102429