Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

Erin C. Hedges; Simon Topp; Christopher E. Shaw; Agnes L. Nishimura

doi:10.1016/j.scr.2021.102246

Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

Erin C. Hedges, Simon Topp, Christopher E. Shaw, Agnes L. Nishimura^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Abstract

Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons, causing gradual paralysis, and resulting in death 3–5 years from diagnosis. ALS causative mutations have been identified in multiple genes, including Fused in sarcoma (FUS), and recently characterized Annexin A11 (ANXA11). We have derived induced pluripotent stem cell (iPSC) lines from six ALS patient lymphoblastoid cell lines, three with mutations in FUS (Q519E, R521H, R522G), and three with mutations in ANXA11 (G38R, D40G, R235Q). These lines have been characterized and provide a novel resource for investigation into ALS pathology.

Original language	English
Article number	102246
Journal	Stem Cell Research
Volume	52
DOIs	https://doi.org/10.1016/j.scr.2021.102246
Publication status	Published - Apr 2021

Access to Document

10.1016/j.scr.2021.102246

Cite this

@article{672a4438171f47058917921a40be3fec,

title = "Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11",

abstract = "Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons, causing gradual paralysis, and resulting in death 3–5 years from diagnosis. ALS causative mutations have been identified in multiple genes, including Fused in sarcoma (FUS), and recently characterized Annexin A11 (ANXA11). We have derived induced pluripotent stem cell (iPSC) lines from six ALS patient lymphoblastoid cell lines, three with mutations in FUS (Q519E, R521H, R522G), and three with mutations in ANXA11 (G38R, D40G, R235Q). These lines have been characterized and provide a novel resource for investigation into ALS pathology.",

author = "Hedges, {Erin C.} and Simon Topp and Shaw, {Christopher E.} and Nishimura, {Agnes L.}",

note = "Funding Information: This work was funded by the Motor Neurone Disease Association (Grant ref: Shaw/Apr15/970-797). Publisher Copyright: {\textcopyright} 2021 Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",

year = "2021",

month = apr,

doi = "10.1016/j.scr.2021.102246",

language = "English",

volume = "52",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

TY - JOUR

T1 - Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

AU - Hedges, Erin C.

AU - Topp, Simon

AU - Shaw, Christopher E.

AU - Nishimura, Agnes L.

N1 - Funding Information: This work was funded by the Motor Neurone Disease Association (Grant ref: Shaw/Apr15/970-797). Publisher Copyright: © 2021 Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

PY - 2021/4

Y1 - 2021/4

N2 - Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons, causing gradual paralysis, and resulting in death 3–5 years from diagnosis. ALS causative mutations have been identified in multiple genes, including Fused in sarcoma (FUS), and recently characterized Annexin A11 (ANXA11). We have derived induced pluripotent stem cell (iPSC) lines from six ALS patient lymphoblastoid cell lines, three with mutations in FUS (Q519E, R521H, R522G), and three with mutations in ANXA11 (G38R, D40G, R235Q). These lines have been characterized and provide a novel resource for investigation into ALS pathology.

AB - Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons, causing gradual paralysis, and resulting in death 3–5 years from diagnosis. ALS causative mutations have been identified in multiple genes, including Fused in sarcoma (FUS), and recently characterized Annexin A11 (ANXA11). We have derived induced pluripotent stem cell (iPSC) lines from six ALS patient lymphoblastoid cell lines, three with mutations in FUS (Q519E, R521H, R522G), and three with mutations in ANXA11 (G38R, D40G, R235Q). These lines have been characterized and provide a novel resource for investigation into ALS pathology.

UR - http://www.scopus.com/inward/record.url?scp=85101383255&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2021.102246

DO - 10.1016/j.scr.2021.102246

M3 - Article

AN - SCOPUS:85101383255

SN - 1873-5061

VL - 52

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 102246

ER -

Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

Abstract

Access to Document

Other files and links

Fingerprint

Cite this