An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene

Stem Cell Research ◽

10.1016/j.scr.2020.101737 ◽

2020 ◽

Vol 44 ◽

pp. 101737 ◽

Author(s):

Rong Li ◽

Manisha Pradhan ◽

Miao Xu ◽

Amanda Roeder ◽

Jeanette Beers ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Disease Type ◽

Stem Cell Line ◽

Niemann Pick Disease ◽

Npc1 Gene ◽

Niemann Pick ◽

Induced Pluripotent ◽

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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 ◽

Author(s):

Amanda Baskfield ◽

Rong Li ◽

Jeanette Beers ◽

Jizhong Zou ◽

Chengyu Liu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Disease Type ◽

Stem Cell Line ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Induced Pluripotent ◽

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Rescue of an In Vitro Neuron Phenotype Identified in Niemann-Pick Disease, Type C1 Induced Pluripotent Stem Cell-Derived Neurons by Modulating the WNT Pathway and Calcium Signaling

Stem Cells Translational Medicine ◽

10.5966/sctm.2014-0127 ◽

2015 ◽

Vol 4 (3) ◽

pp. 230-238 ◽

Author(s):

Anastasia G. Efthymiou ◽

Joe Steiner ◽

William J. Pavan ◽

Stephen Wincovitch ◽

Denise M. Larson ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Wnt Pathway ◽

Induced Pluripotent Stem Cell ◽

Disease Type ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Induced Pluripotent ◽

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Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene

Stem Cell Research ◽

10.1016/j.scr.2019.101436 ◽

2019 ◽

Vol 37 ◽

pp. 101436 ◽

Author(s):

Amanda Baskfield ◽

Rong Li ◽

Jeanette Beers ◽

Jizhong Zou ◽

Chengyu Liu ◽

...

Keyword(s):

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Disease Type ◽

Heterozygous Mutation ◽

Type B ◽

Stem Cell Line ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Induced Pluripotent ◽

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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 ◽

Induced Pluripotent Stem Cell ◽

Disease Type ◽

Stem Cell Line ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Induced Pluripotent ◽

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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 ◽

Induced Pluripotent Stem Cell ◽

Disease Type ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Maple Syrup ◽

Urine Disease ◽

Bckdhb Gene ◽

Induced Pluripotent

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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 ◽

Induced Pluripotent Stem Cell ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Stem Cell Line ◽

Induced Pluripotent

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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 ◽

Author(s):

Ana Joana Duarte ◽

Diogo Ribeiro ◽

Renato Santos ◽

Luciana Moreira ◽

José Bragança ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Gaucher Disease ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Disease Type ◽

Compound Heterozygote ◽

Stem Cell Line ◽

Induced Pluripotent ◽

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Generation of human induced pluripotent stem cell line, KRIBBi003-A, from urinary cells of a patient with glycogen storage disease type IXa

Stem Cell Research ◽

10.1016/j.scr.2021.102584 ◽

2021 ◽

pp. 102584

Author(s):

Yongbo Shin ◽

Seon Ju Mun ◽

Jaeseo Lee ◽

Kyung-Sook Chung ◽

Misuk Kim ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Storage Disease ◽

Induced Pluripotent Stem Cell ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Stem Cell Line ◽

Induced Pluripotent

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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

Stem Cell Research ◽

10.1016/j.scr.2020.102146 ◽

2021 ◽

Vol 50 ◽

pp. 102146

Author(s):

Bin Wang ◽

Chen Liu ◽

Haiyan Zhang ◽

Zhongtao Gai ◽

Yi Liu

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Induced Pluripotent Stem Cell ◽

Disease Type ◽

Homozygous Mutation ◽

Stem Cell Line ◽

Maple Syrup ◽

Urine Disease ◽

Bckdhb Gene ◽

Induced Pluripotent

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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 ◽

Induced Pluripotent Stem Cell ◽

Bartter Syndrome ◽

Syndrome Patient ◽

Stem Cell Line ◽

Slc12a1 Gene ◽

Induced Pluripotent

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