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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White
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Ethnicity
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Hispanic/Latino
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Ethnicity
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El Salvadorian
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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Unaffected mother of affected child (GM27630, lymph); variants of unknown significance reported in the child and in this mother are: c.2456A>G (p.ASP819GLY) in CNKSR2; c.8045+9G>C in HERC1, rs1187530843; c.3512A>G (p.ASN1171SER) in HUWE1, rs781988279; c.6146C>T (p.PRO2049LEU) in KMT2C, rs776261953. |
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