Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene

Nicholas C. Gosstola; Zaohua Huang; Xiaoying Tong; Aida Nourbakhsh; Zheng Yi Chen; Derek M. Dykxhoorn; Xue Zhong Liu

doi:10.1016/j.scr.2020.102017

Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene

Nicholas C. Gosstola, Zaohua Huang, Xiaoying Tong, Aida Nourbakhsh, Zheng Yi Chen, Derek M. Dykxhoorn, Xue Zhong Liu

Hussman Institute for Human Genomics

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

Abstract

UMi028-A-1 hiPSC line contains a CRISPR/Cas9-induced heterozygous, hearing loss-associated variant (V60L (GTA > TTA)) in the Purinergic Receptor P2X2 (P2RX2) gene. This line, derived from an unaffected male iPSC line, has been successfully characterized for its cellular and genetic properties. The c.178G > T variant in P2RX2 is associated with non-syndromic, dominant, progressive hearing loss. Once differentiated into inner ear cell types, UMi028-A-1 will serve as a resource for understanding the molecular mechanisms underlying hearing loss and serve as a potential platform for testing therapeutic approaches to restore inner ear function.

Original language	English (US)
Article number	102017
Journal	Stem Cell Research
Volume	49
DOIs	https://doi.org/10.1016/j.scr.2020.102017
State	Published - Dec 2020

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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10.1016/j.scr.2020.102017

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Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene. / Gosstola, Nicholas C.; Huang, Zaohua; Tong, Xiaoying; Nourbakhsh, Aida; Chen, Zheng Yi; Dykxhoorn, Derek M.; Zhong Liu, Xue.

In: Stem Cell Research, Vol. 49, 102017, 12.2020.

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

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title = "Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene",

abstract = "UMi028-A-1 hiPSC line contains a CRISPR/Cas9-induced heterozygous, hearing loss-associated variant (V60L (GTA > TTA)) in the Purinergic Receptor P2X2 (P2RX2) gene. This line, derived from an unaffected male iPSC line, has been successfully characterized for its cellular and genetic properties. The c.178G > T variant in P2RX2 is associated with non-syndromic, dominant, progressive hearing loss. Once differentiated into inner ear cell types, UMi028-A-1 will serve as a resource for understanding the molecular mechanisms underlying hearing loss and serve as a potential platform for testing therapeutic approaches to restore inner ear function.",

author = "Gosstola, {Nicholas C.} and Zaohua Huang and Xiaoying Tong and Aida Nourbakhsh and Chen, {Zheng Yi} and Dykxhoorn, {Derek M.} and {Zhong Liu}, Xue",

note = "Funding Information: Dr. Liu{\textquoteright}s lab is supported by NIH grants of R01DC005575, R01DC012115. Dr. Aida Nourbakhsh are supported by T32 DC015995. Funding Information: Dr. Liu's lab is supported by NIH grants of R01DC005575, R01DC012115. Dr. Aida Nourbakhsh are supported by T32 DC015995.",

year = "2020",

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doi = "10.1016/j.scr.2020.102017",

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AU - Gosstola, Nicholas C.

AU - Huang, Zaohua

AU - Tong, Xiaoying

AU - Nourbakhsh, Aida

AU - Chen, Zheng Yi

AU - Dykxhoorn, Derek M.

AU - Zhong Liu, Xue

N1 - Funding Information: Dr. Liu’s lab is supported by NIH grants of R01DC005575, R01DC012115. Dr. Aida Nourbakhsh are supported by T32 DC015995. Funding Information: Dr. Liu's lab is supported by NIH grants of R01DC005575, R01DC012115. Dr. Aida Nourbakhsh are supported by T32 DC015995.

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