An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene

Disease Type ◽

Homozygous Mutation ◽

Stem Cell Line ◽

Maple Syrup ◽

Urine Disease ◽

Bckdhb Gene ◽

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene

Stem Cell Research ◽

10.1016/j.scr.2019.101579 ◽

2019 ◽

Vol 40 ◽

pp. 101579

Author(s):

Yue Li ◽

Haiyan Zhang ◽

Beibei Yan ◽

Yanyan Ma ◽

Xiaomeng Yang ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Maple Syrup ◽

Urine Disease ◽

Bckdhb Gene ◽

Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2

Stem Cell Research ◽

10.1016/j.scr.2019.101411 ◽

2019 ◽

Vol 36 ◽

pp. 101411

Author(s):

Jiake Xu ◽

Yong Fu ◽

Weichun Xia ◽

Jing He ◽

Yan Zou ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Stem Cell Line ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Induced Pluripotent ◽

Tooth Disease

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

An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene

Stem Cell Research ◽

10.1016/j.scr.2019.101461 ◽

2019 ◽

Vol 38 ◽

pp. 101461 ◽

Cited By ~ 4

Author(s):

Amanda Baskfield ◽

Rong Li ◽

Jeanette Beers ◽

Jizhong Zou ◽

Chengyu Liu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Stem Cell Line ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Induced Pluripotent ◽

Pick Disease

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, BRCi009-A, derived from a patient with glycogen storage disease type 1a

Stem Cell Research ◽

10.1016/j.scr.2020.102095 ◽

2020 ◽

Vol 49 ◽

pp. 102095

Author(s):

Yukimi Katagami ◽

Takayuki Kondo ◽

Mika Suga ◽

Yuichiro Yada ◽

Keiko Imamura ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

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 ◽

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene

Stem Cell Research ◽

10.1016/j.scr.2019.101595 ◽

2019 ◽

Vol 41 ◽

pp. 101595 ◽

Cited By ~ 2

Author(s):

Ana Joana Duarte ◽

Diogo Ribeiro ◽

Renato Santos ◽

Luciana Moreira ◽

José Bragança ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Gaucher Disease ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Compound Heterozygote ◽

Stem Cell Line ◽

Induced Pluripotent ◽

Type 3