TY - JOUR
T1 - Copy number variations in healthy subjects. Case study
T2 - iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7
AU - Turco, Elisa Maria
AU - Vinci, Ersilia
AU - Altieri, Filomena
AU - Ferrari, Daniela
AU - Torres, Barbara
AU - Goldoni, Marina
AU - Lamorte, Giuseppe
AU - Tata, Ada Maria
AU - Mazzoccoli, Gianluigi
AU - Postorivo, Diana
AU - Della Monica, Matteo
AU - Bernardini, Laura
AU - Vescovi, Angelo Luigi
AU - Rosati, Jessica
N1 - Funding Information:
This work was supported by Italian Ministry of Health , Ricerca Corrente 2016-2017 to JR and J.Lejeune Foundation, project 1758 to JR.
Funding Information:
This work was supported by Italian Ministry of Health, Ricerca Corrente 2016-2017 to JR and J.Lejeune Foundation, project 1758 to JR.
Publisher Copyright:
© 2018
PY - 2018/10
Y1 - 2018/10
N2 - 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.
AB - 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.
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U2 - 10.1016/j.scr.2018.09.002
DO - 10.1016/j.scr.2018.09.002
M3 - Article
C2 - 30218896
AN - SCOPUS:85053192353
VL - 32
SP - 73
EP - 77
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
ER -