NA28011
DNA from Fibroblast
Description:
LEIGH SYNDROME; LS
SURFEIT 1; SURF1
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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 |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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American Indian, Irish, English, French
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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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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| PDL at Freeze |
5.91 |
| Passage Frozen |
2 |
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| Gene |
SURF1 |
| Chromosomal Location |
9q34.2 |
| Allelic Variant 1 |
185620.0003; LEIGH SYNDROME |
| Identified Mutation |
c.312_321del10insAT (p.Leu105*) |
| Remarks |
Unaffected carrier; whole exome sequencing and variant segregation analysis revealed that donor is heterozygous for mutation in the SURF1 gene: c.312_321del10insAT (p.L105X); reads were aligned to human genome build GRCH37/UCSC hg19; affected daughter with compound heterozygous mutations c.312_321del10insAT (p.L105X) and c.574_575insCTGC (p.R192PfsX8) in SURF1 gene is GM28012. |
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