Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene

Syndrome Patient ◽

Ipsc Line ◽

Induced Pluripotent ◽

Bernard Soulier Syndrome

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

Stem Cell Research ◽

10.1016/j.scr.2020.102089 ◽

2020 ◽

Vol 49 ◽

pp. 102089

Author(s):

Xiaoli Ji ◽

Qingyuan Tang ◽

Chuanqing Tang ◽

Ziyan Wu ◽

Ling Ma ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Syndrome Patient ◽

Ipsc Line ◽

Gene Correction ◽

Stem Cell Line ◽

Alstrom Syndrome ◽

Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett Syndrome patient fibroblast line

Stem Cell Research ◽

10.1016/j.scr.2017.02.017 ◽

2017 ◽

Vol 20 ◽

pp. 67-69 ◽

Cited By ~ 4

Author(s):

Lisa Hunihan ◽

Jeffrey Brown ◽

Angela Cacace ◽

Alda Fernandes ◽

Andrea Weston

Keyword(s):

Stem Cell ◽

Rett Syndrome ◽

Pluripotent Stem Cell ◽

Syndrome Patient ◽

Ipsc Line ◽

Patient Fibroblast ◽

Fibroblast Line ◽

Generation of an induced pluripotent stem cell line from a Bartter syndrome patient with the homozygote mutation p.A244D (c.731C>A) in SLC12A1 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102228 ◽

2021 ◽

Vol 52 ◽

pp. 102228

Author(s):

Weiping Ji ◽

Dexuan Wang ◽

Congde Chen ◽

Huihui Chen ◽

Yinjuan Ding ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Bartter Syndrome ◽

Syndrome Patient ◽

Stem Cell Line ◽

Slc12a1 Gene ◽

Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 1-year-old male with pathogenic IDS mutation

Stem Cell Research ◽

10.1016/j.scr.2016.09.033 ◽

2016 ◽

Vol 17 (3) ◽

pp. 482-484 ◽

Cited By ~ 4

Author(s):

Eszter Varga ◽

Csilla Nemes ◽

István Bock ◽

Norbert Varga ◽

Anita Fehér ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Mucopolysaccharidosis Type ◽

Type Ii ◽

Ipsc Line ◽

Mucopolysaccharidosis Type Ii ◽

Mps Ii ◽

Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient

Journal of Molecular and Cellular Cardiology ◽

10.1016/j.yjmcc.2017.10.002 ◽

2018 ◽

Vol 114 ◽

pp. 10-19 ◽

Cited By ~ 18

Author(s):

Elisabet Selga ◽

Franziska Sendfeld ◽

Rebecca Martinez-Moreno ◽

Claire N. Medine ◽

Olga Tura-Ceide ◽

...

Keyword(s):

Stem Cell ◽

Sodium Channel ◽

Brugada Syndrome ◽

Pluripotent Stem Cell ◽

Syndrome Patient ◽

Loss Of Function ◽

Current Loss ◽

Channel Current ◽

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene

Stem Cell Research ◽

10.1016/j.scr.2018.10.016 ◽

2018 ◽

Vol 33 ◽

pp. 166-170 ◽

Cited By ~ 1

Author(s):

Candela Machuca ◽

Angel Vilches ◽

Eleonora Clemente ◽

Samuel Ignacio Pascual-Pascual ◽

Arantxa Bolinches-Amorós ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Female Carrier ◽

Ipsc Line ◽

Reprogramming of a human induced pluripotent stem cell line from a long QT syndrome patient harboring a heterozygous mutation of c.1537C > T in SCN5A gene

Stem Cell Research ◽

10.1016/j.scr.2021.102576 ◽

2021 ◽

pp. 102576

Author(s):

Jianan Chen ◽

Yesang Song ◽

Junqing Gu ◽

Lian Chen

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Syndrome Patient ◽

Stem Cell Line ◽

Long Qt ◽

Qt Syndrome ◽

Induced Pluripotent ◽

Scn5a Gene

Opposing Phenotypes in Dravet Syndrome Patient-Derived Induced Pluripotent Stem Cell Neurons: Can Everyone be Right?

Epilepsy Currents ◽

10.5698/1535-7597.17.4.244 ◽

2017 ◽

Vol 17 (4) ◽

pp. 244-247 ◽

Cited By ~ 4

Author(s):

Lori L. Isom

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Dravet Syndrome ◽

Syndrome Patient ◽

Corrigendum to Establishment of TUSMi005-A, an induced pluripotent stem cell (iPSC) line from a 32-year old Chinese Han patient with Bipolar Disorder (BD). Stem Cell Research 33(2018) 65–68

Stem Cell Research ◽

10.1016/j.scr.2019.101413 ◽

2019 ◽

Vol 36 ◽

pp. 101413

Author(s):

Jian Zhao

Keyword(s):

Bipolar Disorder ◽

Stem Cell ◽

Stem Cell Research ◽

Pluripotent Stem Cell ◽

Ipsc Line ◽

Chinese Han ◽

Old Chinese ◽

Generation of an induced pluripotent stem cell (iPSC) line (THSJTUi001-A) from a Wilson's disease patient harboring a homozygous Arg778Leu mutation in ATP7B gene

Stem Cell Research ◽

10.1016/j.scr.2020.102050 ◽

2020 ◽

Vol 49 ◽

pp. 102050

Author(s):

Shu-Hong Wang ◽

Xiao-Ping Wang

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Wilson’S Disease ◽

Disease Patient ◽

Wilson's Disease ◽

Atp7b Gene ◽

Ipsc Line ◽