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

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 ◽

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 ◽

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 (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 ( Rumi )

Stem Cell Research ◽

10.1016/j.scr.2017.08.020 ◽

2017 ◽

Vol 24 ◽

pp. 102-105 ◽

Cited By ~ 5

Author(s):

Jianbo Wu ◽

Samuel D. Hunt ◽

Nadine Matthias ◽

Emilia Servián-Morilla ◽

Jonathan Lo ◽

...

Keyword(s):

Stem Cell ◽

Muscular Dystrophy ◽

Cell Line ◽

Missense Mutation ◽

Pluripotent Stem Cell ◽

Limb Girdle Muscular Dystrophy ◽

Stem Cell Line ◽

New Type ◽

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 ◽

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 ◽

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 an induced pluripotent stem cell line from a patient carrying FBN1/c.6734 G>A mutation

Stem Cell Research ◽

10.1016/j.scr.2021.102459 ◽

2021 ◽

pp. 102459

Author(s):

Ziwei Pan ◽

Hongkun Wang ◽

Hao Wang ◽

Yong Liu ◽

Ping Liang

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Stem Cell Line ◽

Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP)

Stem Cell Research ◽

10.1016/j.scr.2021.102340 ◽

2021 ◽

Vol 53 ◽

pp. 102340

Author(s):

Manish Kumar ◽

Saruchi Wadhwa ◽

Nishu Tyagi ◽

Istaq Ahmad ◽

Somesh Kumar ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Stem Cell Line ◽

Establishment of an induced pluripotent stem cell line from a female domestic ferret (Mustela putorius furo) with an X chromosome instability

Stem Cell Research ◽

10.1016/j.scr.2021.102385 ◽

2021 ◽

Vol 53 ◽

pp. 102385

Author(s):

Sho Yoshimatsu ◽

Rei Murakami ◽

Mayutaka Nakajima ◽

Tsukika Sato ◽

Hiroshi Kawasaki ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

X Chromosome ◽

Pluripotent Stem Cell ◽

Chromosome Instability ◽

Mustela Putorius ◽

Stem Cell Line ◽

Induced Pluripotent ◽

Mustela Putorius Furo