AI07e-Timothy
This cell line is a modified version of WA01 (H1), engineered to contain a G406 mutation. This isogenic cell line serves as a disease model for Timothy Syndrome.
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Cell Type
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Modified Human ES |
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Disease
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Timothy Syndrome |
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Genetic Alteration/Mutation
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CACNA1C |
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Genetic Alteration/Mutation Information
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Point mutation introduced into both alleles of the CACNA1C gene. Mutation of Gly406 to Arg (G406R) was introduced. |
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Genetic Modification Keyword
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Isogenic; Autism |
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Sex
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Male |
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Genetically Related Cell Lines
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Provider
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Allen Institute - Dr. Boaz Levi
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dbGaP Data
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hPSCReg ID
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NIH Approval
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Pub Med Abstract
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Related Products
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Collection(s)
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Allen Institute Stem Cell Collection for Early Human Brain Development
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