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

Elisa Maria Turco, Ersilia Vinci, Filomena Altieri, Daniela Ferrari, Barbara Torres, Marina Goldoni, Giuseppe Lamorte, Ada Maria Tata, Gianluigi Mazzoccoli, Diana Postorivo, Matteo Della Monica, Laura Bernardini, Angelo Luigi Vescovi, Jessica Rosati

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)73-77
Number of pages5
JournalStem Cell Research
Volume32
DOIs
Publication statusPublished - Oct 1 2018

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Fingerprint Dive into the research topics of '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'. Together they form a unique fingerprint.

Cite this