Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line-Reference-Cited by-同舟云学术

Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line

Published:2021-05 Issue: Volume:53 Page:102305
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

Ma Ling,Wu Ziyan,Tang Qingyuan,Ji Xiaoli,Mei Yuting,Peng Ting,Xu Qiong,Zhou Wenhao,Xiong Man

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference4 articles.

1. Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice;Fotaki;Mol. Cell Biol.,2002

2. Widowati, E.W., Ernst, S., Hausmann, R., Müller-Newen, G., Becker, W.A.-O. Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism. LID - 10.1242/bio.032862 [doi] LID - bio032862. (2046-6390 (Print)).

3. Inhibition of DYRK1A disrupts neural lineage specificationin human pluripotent stem cells;Bellmaine;Elife,2017

4. Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line;Ji;Stem Cell Res.,2020

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1. Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7;Frontiers in Genetics;2023-12-20

2. Research and Therapeutic Approaches in Stem Cell Genome Editing by CRISPR Toolkit;Molecules;2023-02-20