Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation-Reference-Cited by-同舟云学术

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Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation

Published:2024-10 Issue: Volume:80 Page:103504
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

Joseph Benjamin,Varea Isabella,Emmerich Kevin,Manohar-Sindhu Sahana,Zou Jizhong,Friend Kip,Sipwoli Caleb,Tang Xuming,Yang Dan,de Jesus Rasheed Adriana A,Goldbach-Mansky Raphaela,Boehm Manfred

Funder

National Institutes of Health

Publisher

Elsevier BV

Reference5 articles.

1. Generation of human induced pluripotent stem cells from individuals with a homozygous CCR5Δ32 mutation;Chen;Stem Cell Res.,2019

2. Increased activity of TNAP compensates for reduced adenosine production and promotes ectopic calcification in the genetic disease ACDC;Jin;Sci. Signal.,2016

3. Genetics of COPA syndrome;Kumrah;Appl. Clin. Genet.,2019

4. Generation of two induced pluripotent stem cell lines (NHLBIi001-A and NHLBIi001-B) from a healthy Caucasian female volunteer with normal cardiac function;Patterson;Stem Cell Res.,2019

5. Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease;Vece;J. Clin. Immunol.,2016

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