Description:
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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Race
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White
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Family Member
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3
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Relation to Proband
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mother
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Confirmation
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Karyotypic analysis and In situ hybridization
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ISCN
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47,XX,del(17)(pter>p11.2::p10>qter),+der(17)(:p11.2>q10:)[41]/ 46,XX,del(17)(pter>p11.2::p10>qter)[9].ish del(17)(D17Z1+),der(17)(D17Z1+)
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosomal Analysis |
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| Cytogenetics |
Chromosome 17: DELETION Aneuploid Segment (-)17p11>17p10 |
| Remarks |
Clinically normal; see GM08145 Lymphoid; 88% of peripheral blood lymphocytes had a 17p- marker chromosome; 82% of fibroblasts have the del(17)(:p11.2>cen:) |
| Huynh C, Roth D, Ward DM, Kaplan J, Andrews NW, Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells. Proc Natl Acad Sci U S A101(48):16795-800 2004 |
| PubMed ID: 15557559 |
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| Rudd MK, Mays RW, Schwartz S, Willard HF, Human artificial chromosomes with alpha satellite-based de novo centromeres show increased frequency of nondisjunction and anaphase lag. Mol Cell Biol23(21):7689-97 2003 |
| PubMed ID: 14560014 |
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| Wevrick R, Earnshaw WC, Howard-Peebles PN, Willard HF, Partial deletion of alpha satellite DNA associated with reduced amounts of the centromere protein CENP-B in a mitotically stable human chromosome rearrangement. Mol Cell Biol10:6374-80 1990 |
| PubMed ID: 2247061 |
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| Howard-Peebles, A stable supernumary chromosome derived from a deleted segment of 17p. Am J Hum Genet37:A97 (1985):6374-80 1985 |
| PubMed ID: 2247061 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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