NA06199
DNA from Fibroblast
Description:
RING CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Foreskin
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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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Black/African American
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,r(21)(::p13>q22::)
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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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|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Fibroblast culture (foreskin); incarcerated inguinal hernia; no apparent dysmorphic features; 94% of cells have r(21) at P7; no evidence of sickle cell disease or trait using DNA analysis; mother (HbAS) is GM08779A Lymphoid |
| Kouprina N, Pavlicek A, Noskov VN, Solomon G, Otstot J, Isaacs W, Carpten JD, Trent JM, Schleutker J, Barrett JC, Jurka J, Larionov V, Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27 Genome research15:1477-86 2005 |
| PubMed ID: 16251457 |
| |
| Stetten G, Sroka B, Corson VL, Boehm CD, Prenatal detection of an unstable ring 21 chromosome. Hum Genet68:310-3 1984 |
| PubMed ID: 6510909 |
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