Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene
Dominant deafness-onychodystrophy (DDOD) syndrome is a rare autosomal dominant disorder caused by mutations in ATP6V1B2 gene. We previously generated an induced pluripotent stem cell (iPSC) line (CPGHi002-A) from a DDOD patient with a heterozygous c.1516 C>T mutation in the ATP6V1B2 gene. Here we...
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| Format: | Article |
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Elsevier
2021-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121001173 |
| _version_ | 1818647563992039424 |
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| author | Xue Gao Shi–Wei Qiu Wei-Qian Wang Dong-Yang Kang Ning Su Pu Dai Yong–Yi Yuan |
| author_facet | Xue Gao Shi–Wei Qiu Wei-Qian Wang Dong-Yang Kang Ning Su Pu Dai Yong–Yi Yuan |
| author_sort | Xue Gao |
| collection | DOAJ |
| description | Dominant deafness-onychodystrophy (DDOD) syndrome is a rare autosomal dominant disorder caused by mutations in ATP6V1B2 gene. We previously generated an induced pluripotent stem cell (iPSC) line (CPGHi002-A) from a DDOD patient with a heterozygous c.1516 C>T mutation in the ATP6V1B2 gene. Here we genetically corrected the c.1516 C>T mutation in the ATP6V1B2 gene using CRISPR/Cas9 technology to generate an isogenic control, CPGHi002-A-1. The characterization of CPGHi002-A-1 demonstrates normal karyotype, pluripotent state, and potential to differentiate in vitro towards endoderm, mesoderm, and ectoderm. |
| first_indexed | 2024-12-17T01:04:32Z |
| format | Article |
| id | doaj.art-db76a8537ba844f3a529544e20e312f3 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-17T01:04:32Z |
| publishDate | 2021-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-db76a8537ba844f3a529544e20e312f32022-12-21T22:09:20ZengElsevierStem Cell Research1873-50612021-05-0153102271Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 geneXue Gao0Shi–Wei Qiu1Wei-Qian Wang2Dong-Yang Kang3Ning Su4Pu Dai5Yong–Yi Yuan6College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, China; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, 16# Xin Wai Da Jie, Beijing 100088, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, ChinaCollege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, China; Corresponding authors.College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, China; Corresponding authors.Dominant deafness-onychodystrophy (DDOD) syndrome is a rare autosomal dominant disorder caused by mutations in ATP6V1B2 gene. We previously generated an induced pluripotent stem cell (iPSC) line (CPGHi002-A) from a DDOD patient with a heterozygous c.1516 C>T mutation in the ATP6V1B2 gene. Here we genetically corrected the c.1516 C>T mutation in the ATP6V1B2 gene using CRISPR/Cas9 technology to generate an isogenic control, CPGHi002-A-1. The characterization of CPGHi002-A-1 demonstrates normal karyotype, pluripotent state, and potential to differentiate in vitro towards endoderm, mesoderm, and ectoderm.http://www.sciencedirect.com/science/article/pii/S1873506121001173 |
| spellingShingle | Xue Gao Shi–Wei Qiu Wei-Qian Wang Dong-Yang Kang Ning Su Pu Dai Yong–Yi Yuan Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene Stem Cell Research |
| title | Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene |
| title_full | Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene |
| title_fullStr | Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene |
| title_full_unstemmed | Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene |
| title_short | Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene |
| title_sort | generation of a gene corrected human isogenic ipsc line cpghi002 a 1 from a ddod patient with heterozygous c 1516 c t mutation in the atp6v1b2 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506121001173 |
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