CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV), which causes its duplication or deletion. The clinical significance of CHRNA7 duplications is unknown so far, but there are several research data suggesting that they may be pathogenic, with reduced penetrance. We have produced an iPS cell line from a single healthy donor's fibroblasts carrying a 15q13.3 CNV, including CHRNA7 in order to study the exact role of this CNV during the neurodevelopment.

Turco, E., Vinci, E., Altieri, F., Ferrari, D., Torres, B., Goldoni, M., et al. (2018). Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7. STEM CELL RESEARCH, 32, 73-77 [10.1016/j.scr.2018.09.002].

Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7

Ferrari, D;Vescovi, AL
Penultimo
;
2018

Abstract

CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV), which causes its duplication or deletion. The clinical significance of CHRNA7 duplications is unknown so far, but there are several research data suggesting that they may be pathogenic, with reduced penetrance. We have produced an iPS cell line from a single healthy donor's fibroblasts carrying a 15q13.3 CNV, including CHRNA7 in order to study the exact role of this CNV during the neurodevelopment.
Articolo in rivista - Articolo scientifico
Developmental Biology; Cell Biology
English
2018
32
73
77
none
Turco, E., Vinci, E., Altieri, F., Ferrari, D., Torres, B., Goldoni, M., et al. (2018). Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7. STEM CELL RESEARCH, 32, 73-77 [10.1016/j.scr.2018.09.002].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/219103
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