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Publication

Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation.

Yen-Hui Chan | Yen-Fu Cheng | You-Tzung Chen | Cheng-Yen Huang | Chin-Hsien Lin | Chin-Ju Hu | Ying-Chang Lu | Chen-Chi Wu | Chuan-Jen Hsu
Stem cell research | 2018

Recessive mutations in the GJB2 gene are the most common genetic cause of hearing loss in humans. By using the Sendai-virus delivery system, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with the p.V37I (c.109G > A) mutation, a GJB2 mutation highly prevalent in the Asian population. The resulting iPSCs had a normal karyotype. The iPSCs also showed pluripotency, as confirmed by immunofluorescence staining, and differentiated into the three germ layers in vivo. This cellular model will provide a useful platform for investigating the pathogenic mechanisms of deafness related to GJB2 mutations.

Pubmed ID: 30316039

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Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.

This is a list of tools and resources that we have found mentioned in this publication.

Hereditary Hearing Loss Homepage (tool)

RRID:SCR_006469

Overview of the genetics of hereditary hearing impairment for researchers and clinicians. The site lists data and references for all known gene localizations and identifications for nonsyndromic hearing impairment, and several for syndromic hearing loss. For syndromic hearing impairment, only a few of the most frequent forms are covered. An atlas of cochlea with genes listed can be accessed from this site.

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3-Germ Layer Immunocytochemistry Kit (antibody)

RRID:AB_2651011

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Sox2 (antibody)

RRID:AB_1645334

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Mouse Anti-Human Nanog Monoclonal Antibody, PE Conjugated (antibody)

RRID:AB_1645522

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Mouse Anti-Human TRA-1-81 Antigen Monoclonal Antibody, PE Conjugated (antibody)

RRID:AB_1645540

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3-Germ Layer Immunocytochemistry Kit (antibody)

RRID:AB_2651004

This unknown targets

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Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)

RRID:AB_2651006

This unknown targets

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Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)

RRID:AB_2651000

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Mouse Anti-Human TRA-1-60 Antigen Monoclonal Antibody, PE Conjugated (antibody)

RRID:AB_1645539

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Mouse Anti-Human SSEA-4 Monoclonal Antibody, PE Conjugated (antibody)

RRID:AB_1645533

This monoclonal targets Human SSEA-4

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RRID:AB_2651003

This unknown targets

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RRID:AB_2651012

This unknown targets

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Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)

RRID:AB_2651007

This unknown targets

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3-Germ Layer Immunocytochemistry Kit (antibody)

RRID:AB_2651010

This unknown targets

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Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)

RRID:AB_2651009

This unknown targets

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3-Germ Layer Immunocytochemistry Kit (antibody)

RRID:AB_2651005

This unknown targets

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Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)

RRID:AB_2651001

This unknown targets

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Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)

RRID:AB_2650999

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Oct3/4 (antibody)

RRID:AB_1645331

This monoclonal targets Oct3/4

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Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)

RRID:AB_2651008

This unknown targets

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Pluripotent Stem Cell 4-Marker Immunocytochemistry Kit (antibody)

RRID:AB_2651002

This unknown targets

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The Stimulating Peripheral Activity to Relieve Conditions (SPARC) effort is the result of National Institutes of Health’s (NIH) drive to map out the neural circuitry responsible for visceral control in higher vertebrates. The SPARC Anatomy Working Group (SAWG) is responsible for the integrity of anatomical knowledge in SPARC

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Department of Neurosciences, School of Medicine

University of California, San Diego

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