Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 ( Rumi )

Limb Girdle Muscular Dystrophy ◽

Stem Cell Line ◽

New Type ◽

Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.

Stem Cell Research ◽

10.1016/j.scr.2020.101819 ◽

2020 ◽

Vol 45 ◽

pp. 101819 ◽

Cited By ~ 1

Author(s):

Davide Rovina ◽

Elisa Castiglioni ◽

Francesco Niro ◽

Andrea Farini ◽

Marzia Belicchi ◽

...

Keyword(s):

Stem Cell ◽

Muscular Dystrophy ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Becker Muscular Dystrophy ◽

Splicing Mutation ◽

Stem Cell Line ◽

Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation

Stem Cell Research ◽

10.1016/j.scr.2020.101727 ◽

2020 ◽

Vol 43 ◽

pp. 101727

Author(s):

Wang Xiaojing ◽

Ma Yanyan ◽

Duan Ruonan ◽

Liu Xiaolin ◽

Zhang Haiyan ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Missense Mutation ◽

Hereditary Spastic Paraplegia ◽

Pluripotent Stem Cell ◽

Spastic Paraplegia ◽

Stem Cell Line ◽

Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆ 49, ∆ 50)

Stem Cell Research ◽

10.1016/j.scr.2017.10.018 ◽

2017 ◽

Vol 25 ◽

pp. 128-131 ◽

Cited By ~ 7

Author(s):

Gabriella Spaltro ◽

Vera Vigorelli ◽

Federica Casalnuovo ◽

Pietro Spinelli ◽

Elisa Castiglioni ◽

...

Keyword(s):

Stem Cell ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Duchenne Muscular Dystrophy Patient ◽

Stem Cell Line ◽

Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene

Stem Cell Research ◽

10.1016/j.scr.2021.102556 ◽

2021 ◽

pp. 102556

Author(s):

D.I. Zhigalina ◽

A.A. Malakhova ◽

O.Yu. Vasilyeva ◽

E.V. Grigor'eva ◽

A.A. Sivtcev ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Missense Mutation ◽

Pluripotent Stem Cell ◽

Frameshift Mutation ◽

Disease Patient ◽

Atp7b Gene ◽

Stem Cell Line ◽

Autism‐associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line

FEBS Journal ◽

10.1111/febs.15287 ◽

2020 ◽

Vol 287 (22) ◽

pp. 4848-4861 ◽

Cited By ~ 1

Author(s):

Chi Wai Wong ◽

Yubing Wang ◽

Tian Liu ◽

Lisha Li ◽

Stanley Kwok Kuen Cheung ◽

...

Keyword(s):

Stem Cell ◽

Neurite Outgrowth ◽

Cell Line ◽

Missense Mutation ◽

Nuclear Localization ◽

Pluripotent Stem Cell ◽

Stem Cell Line ◽

Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51–53 of the dystrophin gene (CCMi003-A)

Stem Cell Research ◽

10.1016/j.scr.2019.101544 ◽

2019 ◽

Vol 40 ◽

pp. 101544 ◽

Cited By ~ 3

Author(s):

Davide Rovina ◽

Elisa Castiglioni ◽

Andrea Farini ◽

Marzia Bellichi ◽

Cristina Gervasini ◽

...

Keyword(s):

Stem Cell ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Dystrophin Gene ◽

Duchenne Muscular Dystrophy Patient ◽

Stem Cell Line ◽

Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase–A gene

Stem Cell Research ◽

10.1016/j.scr.2018.08.009 ◽

2018 ◽

Vol 31 ◽

pp. 222-226 ◽

Cited By ~ 2

Author(s):

Thomas Klein ◽

Katharina Günther ◽

Chee Keong Kwok ◽

Frank Edenhofer ◽

Nurcan Üçeyler

Keyword(s):

Stem Cell ◽

Fabry Disease ◽

Cell Line ◽

Missense Mutation ◽

Pluripotent Stem Cell ◽

Skin Fibroblasts ◽

Stem Cell Line ◽

Alpha Galactosidase ◽

Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102573 ◽

2021 ◽

pp. 102573

Author(s):

Mansoureh Tabatabaeifar ◽

Theresa Leonie Fluhr ◽

Hanna Syring ◽

Gudrun Göhring ◽

Franz Schaefer ◽

...

Keyword(s):

Stem Cell ◽

Kidney Disease ◽

Cell Line ◽

Missense Mutation ◽

Pluripotent Stem Cell ◽

Autosomal Recessive ◽

Polycystic Kidney ◽

Stem Cell Line ◽

Generation and characterization of an induced pluripotent stem cell line (ZSYYDNi001-A) from a patient with Duchenne muscular dystrophy carrying exon 51 deletion in the DMD gene

Stem Cell Research ◽

10.1016/j.scr.2021.102553 ◽

2021 ◽

pp. 102553

Author(s):

Liang Wang ◽

Huan Li ◽

Yaqin Li ◽

Min Xu ◽

Jinfu Lin ◽

...

Keyword(s):

Stem Cell ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Stem Cell Line ◽

Dmd Gene ◽

Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation

Stem Cell Research ◽

10.1016/j.scr.2022.102663 ◽

2022 ◽

pp. 102663

Author(s):

Shaohua Li ◽

Yunchao Wang ◽

Huifang Sun ◽

Zhuoya Wang ◽

Qi Zhang ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Missense Mutation ◽

Pluripotent Stem Cell ◽

Stem Cell Line ◽