An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene

Homozygous Mutation ◽

Stem Cell Line ◽

Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B

Stem Cell Research ◽

10.1016/j.scr.2016.06.005 ◽

2016 ◽

Vol 17 (1) ◽

pp. 151-153 ◽

Cited By ~ 4

Author(s):

Yu Zhang ◽

Benjamin Schmid ◽

Troels T. Nielsen ◽

Jørgen E. Nielsen ◽

Christian Clausen ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Homozygous Mutation ◽

Stem Cell Line ◽

Site Specific ◽

Induced Pluripotent ◽

A Site

Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene

Stem Cell Research ◽

10.1016/j.scr.2019.101569 ◽

2019 ◽

Vol 40 ◽

pp. 101569

Author(s):

Judit Domingo-Prim ◽

Víctor Abad-Morales ◽

Marina Riera ◽

Rafael Navarro ◽

Borja Corcostegui ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Homozygous Mutation ◽

Stem Cell Line ◽

Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7

Stem Cell Research ◽

10.1016/j.scr.2021.102175 ◽

2021 ◽

Vol 51 ◽

pp. 102175

Author(s):

Zhi-ting Chen ◽

Zhen-hua Zhao ◽

Li-na Chen ◽

Fei Fan ◽

Guo-en Cai ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Homozygous Mutation ◽

Stem Cell Line ◽

Generation of a human induced pluripotent stem cell line JHUi003-A with homozygous mutation for spinocerebellar ataxia type 12 using genome editing

Stem Cell Research ◽

10.1016/j.scr.2021.102346 ◽

2021 ◽

pp. 102346

Author(s):

Hongxuan Feng ◽

Qinshan Li ◽

Russell L. Margolis ◽

Pan P. Li

Keyword(s):

Stem Cell ◽

Cell Line ◽

Genome Editing ◽

Spinocerebellar Ataxia ◽

Pluripotent Stem Cell ◽

Spinocerebellar Ataxia Type ◽

Homozygous Mutation ◽

Stem Cell Line ◽

Establishment of human induced pluripotent stem cell line (SDQLCHi040-A) from a patient with Infantile-onset inflammatory bowel disease carrying a homozygous mutation in IL10RA gene

Stem Cell Research ◽

10.1016/j.scr.2021.102533 ◽

2021 ◽

Vol 56 ◽

pp. 102533

Author(s):

Ning Liu ◽

Xiaomeng Yang ◽

Lu Yang ◽

Junjie Xu ◽

Rui Dong ◽

...

Keyword(s):

Inflammatory Bowel Disease ◽

Stem Cell ◽

Cell Line ◽

Bowel Disease ◽

Pluripotent Stem Cell ◽

Homozygous Mutation ◽

Stem Cell Line ◽

Inflammatory Bowel ◽

Generation of the induced pluripotent stem cell line (NCKDi004-A) from a 17-year-old patient with Alport syndrome carring a homozygous mutation in COL4A3 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102557 ◽

2021 ◽

pp. 102557

Author(s):

Hangdi Wu ◽

Gang Wang ◽

Erzhi Gao ◽

Li Zhang ◽

Yuqing Zhu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Alport Syndrome ◽

Homozygous Mutation ◽

Stem Cell Line ◽

An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102433 ◽

2021 ◽

pp. 102433

Author(s):

Ahmed K. Elsayed ◽

Sara Al-Khawaga ◽

Khalid Hussain ◽

Essam M. Abdelalim

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Neonatal Diabetes ◽

Homozygous Mutation ◽

Stem Cell Line ◽

Induced Pluripotent ◽

Slc2a2 Gene

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 ◽