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

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Stem Cell Line ◽

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

Stem Cell Research ◽

10.1016/j.scr.2021.102414 ◽

2021 ◽

pp. 102414

Author(s):

Alexandra V. Panova ◽

Kristina S. Kulikova ◽

Natalia V. Klementieva ◽

Ivan D. Krylov ◽

Irina O. Shezhko ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Casr Gene ◽

Neonatal Severe Primary Hyperparathyroidism ◽

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 a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations

Stem Cell Research ◽

10.1016/j.scr.2020.101782 ◽

2020 ◽

Vol 45 ◽

pp. 101782

Author(s):

Kazuma Kamata ◽

Yuki Otsuka ◽

Keiko Imamura ◽

Akio Oishi ◽

Takayuki Kondo ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Stem Cell Line ◽

Induced Pluripotent ◽

Best Disease

Generation of a human induced pluripotent stem cell line derived from a Parkinson's disease patient carrying SNCA duplication

Stem Cell Research ◽

10.1016/j.scr.2020.101828 ◽

2020 ◽

Vol 45 ◽

pp. 101828

Author(s):

Hidefumi Suzuki ◽

Naohiro Egawa ◽

Takayuki Kondo ◽

Keiko Imamura ◽

Takako Enami ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Stem Cell Line ◽

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 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 an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene

Stem Cell Research ◽

10.1016/j.scr.2018.01.022 ◽

2018 ◽

Vol 28 ◽

pp. 44-47 ◽

Cited By ~ 2

Author(s):

Ana Marote ◽

Yuriy Pomeshchik ◽

Anna Collin ◽

Stefano Goldwurm ◽

Nuno J. Lamas ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Stem Cell Line ◽

Lrrk2 Gene ◽

Generation of induced pluripotent stem cell line (IPTi001-A) from a 62-year old sporadic Alzheimer's disease patient with APOE3 (ε3/ε3) genotype

Stem Cell Research ◽

10.1016/j.scr.2019.101589 ◽

2019 ◽

Vol 41 ◽

pp. 101589 ◽

Cited By ~ 1

Author(s):

Lin Zhang ◽

Mei Xu ◽

Gang Liu ◽

Rongrong Wu ◽

Shulin Meng ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Stem Cell Line ◽

Sporadic Alzheimer’S Disease ◽

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 ◽

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