Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic acid-induced retinoic acid1 (RAI1) gene, determined by an interstitial deletion of ∼ 3.7 Mb (17p11.2, including the RAI1 gene) in 90 % of cases and a mutation on the RAI1 gene in only 10 % of cases. We generated and characterized a human pluripotent stem cell line (hIPSCs) derived from primary fibroblasts of a 17-year-old woman carrying a 17p11.2 deletion including the RAI1 gene.
Giovenale, A., Turco, E., Mazzoni, M., Ferrone, I., Torres, B., Bernardini, L., et al. (2024). Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region. STEM CELL RESEARCH, 81(December 2024) [10.1016/j.scr.2024.103544].
Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region
Giovenale A. M. G.Co-primo
;Vulcano E.;Ferrari D.;Rosati J.
2024
Abstract
Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic acid-induced retinoic acid1 (RAI1) gene, determined by an interstitial deletion of ∼ 3.7 Mb (17p11.2, including the RAI1 gene) in 90 % of cases and a mutation on the RAI1 gene in only 10 % of cases. We generated and characterized a human pluripotent stem cell line (hIPSCs) derived from primary fibroblasts of a 17-year-old woman carrying a 17p11.2 deletion including the RAI1 gene.
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