Generation of human-induced pluripotent stem cells from a patient with homozygous I1234V mutation of cystic fibrosis.
Author | Emara, Mohamed M |
Author | Thomas, Merlin |
Author | Al Langawi, Mona |
Author | Nomikos, Michail |
Author | Mousa, Hanaa |
Author | Aboukhalaf, Soha |
Author | Abouzeid, Nadin H |
Author | AlShanableh, Yasemin |
Author | Al Thani, Maryam K |
Author | Hussein, Yehia Y |
Author | Swaidan, Nuha T |
Author | Elsharabassi, Yasmin |
Available date | 2024-09-29T07:19:07Z |
Publication Date | 2024-04-08 |
Publication Name | Qatar Medical Journal (QMJ) |
Identifier | 10.5339/qmj.2024.qitc.4 |
Citation | Emara, M. M., Thomas, M., Al Langawi, M., Nomikos, M., Mousa, H., Aboukhalaf, S., ... & Elsharabassi, Y. (2024). Generation of human-induced pluripotent stem cells from a patient with homozygous I1234V mutation of cystic fibrosis. Qatar Medical Journal, 2024(2). |
ISSN | 0253-8253 |
Abstract | Cystic fibrosis (CF) is an inherited autosomal recessive disorder. The most predominant mutation among Qatari patients with CF is the homozygous I1234V mutation, which is more prevalent in a Bedouin tribe.1 There are no reliable models of this mutation available to study the pathogenesis of CF; therefore, discovery of an effective treatment for the disease is ongoing. |
Language | en |
Publisher | Hamad bin Khalifa University Press |
Subject | Cystic fibrosis Induced pluripotent stem cells homozygous I1234V mutation |
Type | Article |
Issue Number | 2 |
Volume Number | 2024 |
ESSN | 2227-0426 |
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