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 Res
; 32: 73-77, 2018 10.
Article
em En
| MEDLINE
| ID: mdl-30218896
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 15
/
Células-Tronco Pluripotentes Induzidas
/
Variações do Número de Cópias de DNA
/
Receptor Nicotínico de Acetilcolina alfa7
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article