دورية أكاديمية

Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

التفاصيل البيبلوغرافية
العنوان: Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11
المؤلفون: Erin C. Hedges, Simon Topp, Christopher E. Shaw, Agnes L. Nishimura
المصدر: Stem Cell Research, Vol 52, Iss , Pp 102246- (2021)
بيانات النشر: Elsevier, 2021.
سنة النشر: 2021
المجموعة: LCC:Biology (General)
مصطلحات موضوعية: Biology (General), QH301-705.5
الوصف: Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons, causing gradual paralysis, and resulting in death 3–5 years from diagnosis. ALS causative mutations have been identified in multiple genes, including Fused in sarcoma (FUS), and recently characterized Annexin A11 (ANXA11). We have derived induced pluripotent stem cell (iPSC) lines from six ALS patient lymphoblastoid cell lines, three with mutations in FUS (Q519E, R521H, R522G), and three with mutations in ANXA11 (G38R, D40G, R235Q). These lines have been characterized and provide a novel resource for investigation into ALS pathology.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1873-5061
Relation: http://www.sciencedirect.com/science/article/pii/S1873506121000921; https://doaj.org/toc/1873-5061
DOI: 10.1016/j.scr.2021.102246
URL الوصول: https://doaj.org/article/178e13a7cc4245309523a87ef57bbac3
رقم الأكسشن: edsdoj.178e13a7cc4245309523a87ef57bbac3
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:18735061
DOI:10.1016/j.scr.2021.102246