NA00380
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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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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Family Member
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1
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Relation to Proband
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parent
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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,XX,t(4;11)(4pter>4q23::11q11>11qter; 11pter>11q11::4q23>4qter)
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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11q11 t(4;11)11q11 |
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Chromosome 4: TRANSLOCATION Breakpoint 4q23 t(4;11)4q23 |
| Remarks |
Clinically normal with a history of two normal children and two children who expired before age 1 month; see GM01561 Lymphoid |
| Wheeler S, Bhardwaj M, Kenyon V, Ferraz MJ, Aerts JMFG, Sillence DJ, Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1 FEBS letters: 2023 |
| PubMed ID: 38302739 |
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| Wheeler S, Haberkant P, Bhardwaj M, Tongue P, Ferraz MJ, Halter D, Sprong H, Schmid R, Aerts JMFG, Sullo N, Sillence DJ, Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease Neurobiology of disease127:242-252 2018 |
| PubMed ID: 30872158 |
| |
| Blander G, Zalle N, Leal JF, Bar-Or RL, Yu CE, Oren M, The Werner syndrome protein contributes to induction of p53 by DNA damage. FASEB J14(14):2138-40 2000 |
| PubMed ID: 11023999 |
| |
| Lebo RV, Kan YW, Cheung MC, Carrano AV, Yu LC, Chang JC, Cordell B, Goodman HM, Assigning the polymorphic human insulin gene to the short arm of chromosome 11 by chromosome sorting. Hum Genet60:10-15 1982 |
| PubMed ID: 6281170 |
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| Lebo RV, Carrano AV, Burkhart-Schultz K, Dozy AM, Yu LC, Kan YW, Assignment of human beta-, gamma-, and delta-globin genes to the short arm of chromosome 11 by chromosome sorting and DNA restriction enzyme analysis. Proc Natl Acad Sci U S A76:5804-8 1979 |
| PubMed ID: 293684 |
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| Kousseff BG, Kim HJ, Hsu LY, Kirschhorn K, Miller RC, Greene AE, Coriell LL, A (4;11) translocation, balanced, 46 chromosomes. Repository identification No. GM-380. Cytogenet Cell Genet14:150-1 1975 |
| PubMed ID: 1149495 |
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