Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Other
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Bosnian
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Country of Origin
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USA
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Family Member
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3
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Family History
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N
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Relation to Proband
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father
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Remarks |
Unaffected father of affected proband; fibro is GM27968; clinical exome sequencing test results were negative for the pathogenic heterozygous de novo CHAMP1 variant c.542_543delCT (p.Ser181CysfsX5) harbored by affected daughter, GM27963 (fibro) and GM27967 (LCL); though this parent does not have the pathogenic variant, the possibility of germline mosaicism cannot be excluded; positive for the Factor V Leiden variant not detected in the affected daughter. |
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