Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Casr Gene ◽

Neonatal Severe Primary Hyperparathyroidism ◽

Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene

Stem Cell Research ◽

10.1016/j.scr.2018.01.006 ◽

2018 ◽

Vol 27 ◽

pp. 90-94 ◽

Cited By ~ 1

Author(s):

Ana Marote ◽

Yuriy Pomeshchik ◽

Stefano Goldwurm ◽

Anna Collin ◽

Nuno J. Lamas ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein

Stem Cell Research ◽

10.1016/j.scr.2021.102356 ◽

2021 ◽

pp. 102356

Author(s):

Angela D'Anzi ◽

Filomena Altieri ◽

Elisa Perciballi ◽

Daniela Ferrari ◽

Barbara Torres ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Generation of the induced pluripotent stem cell line (NCKDi002-A) from a 22-year-old patient with Focal Segmental Glomerular Sclerosis carrying a heterozygous mutation in WT1 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102293 ◽

2021 ◽

Vol 53 ◽

pp. 102293

Author(s):

Hangdi Wu ◽

Gang Wang ◽

Erzhi Gao ◽

Jing Zhao ◽

Li Zhang ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Glomerular Sclerosis ◽

Heterozygous Mutation ◽

Wt1 Gene ◽

Stem Cell Line ◽

Focal Segmental Glomerular Sclerosis ◽

Induced Pluripotent ◽

Segmental Glomerular Sclerosis

Reprogramming of a human induced pluripotent stem cell line from a long QT syndrome patient harboring a heterozygous mutation of c.1537C > T in SCN5A gene

Stem Cell Research ◽

10.1016/j.scr.2021.102576 ◽

2021 ◽

pp. 102576

Author(s):

Jianan Chen ◽

Yesang Song ◽

Junqing Gu ◽

Lian Chen

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Syndrome Patient ◽

Stem Cell Line ◽

Long Qt ◽

Qt Syndrome ◽

Induced Pluripotent ◽

Scn5a Gene

Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene

Stem Cell Research ◽

10.1016/j.scr.2019.101565 ◽

2019 ◽

Vol 40 ◽

pp. 101565

Author(s):

Haiyan Zhang ◽

Yanyan Ma ◽

Beibei Yan ◽

Xiaomeng Yang ◽

Yue Li ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Kit Gene ◽

Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene

Stem Cell Research ◽

10.1016/j.scr.2020.101748 ◽

2020 ◽

Vol 44 ◽

pp. 101748

Author(s):

Mbarka Bchetnia ◽

Laurie Martineau ◽

Véronique Racine ◽

Julie Powell ◽

Catherine McCuaig ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Epidermolysis Bullosa ◽

Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Epidermolysis Bullosa Simplex ◽

Stem Cell Line ◽

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 an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene

Stem Cell Research ◽

10.1016/j.scr.2019.101408 ◽

2019 ◽

Vol 36 ◽

pp. 101408 ◽

Cited By ~ 1

Author(s):

Rong Li ◽

Amanda Baskfield ◽

Jeanette Beers ◽

Jizhong Zou ◽

Chengyu Liu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Mucopolysaccharidosis Type ◽

Stem Cell Line ◽

Mps Iva ◽

Induced Pluripotent ◽

Mucopolysaccharidosis Type Iva

Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene

Stem Cell Research ◽

10.1016/j.scr.2019.101559 ◽

2019 ◽

Vol 40 ◽

pp. 101559

Author(s):

Yanyan Ma ◽

Haiyan Zhang ◽

Xiaomeng Yang ◽

Yue Li ◽

Jingyun Guan ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Nemaline Myopathy ◽

Heterozygous Mutation ◽

Stem Cell Line ◽

Reprogramming of a human induced pluripotent stem cell line from a Marfan syndrome patient harboring a heterozygous mutation of c.2939G > A in FBN1 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102163 ◽

2021 ◽

Vol 51 ◽

pp. 102163

Author(s):

Zhiping Qin ◽

Liqiang Sun ◽

Xue Sun ◽

Xinxuan Gao ◽

Hang Su

Keyword(s):

Stem Cell ◽

Cell Line ◽

Marfan Syndrome ◽

Pluripotent Stem Cell ◽

Heterozygous Mutation ◽

Syndrome Patient ◽

Stem Cell Line ◽

Fbn1 Gene ◽