Description:
CHROMOSOME INSERTION
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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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Black/African American
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Family Member
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3
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Relation to Proband
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cousin
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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,der(5)(5pter>5q33:: 6q15>6q25::5q33>5qter)mat
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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 |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 6: DERIVATIVE CHROMOSOME Aneuploid Segment (+)6q15>6q25 |
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Chromosome 6: DERIVATIVE CHROMOSOME Trisomic Segment 6q15>6q25 |
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Chromosome 6: INSERTION Aneuploid Segment (+)6q15>6q25 |
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Chromosome 6: INSERTION Trisomic Segment 6q15>6q25 |
| Remarks |
Growth and mental retardation; peculiar facies |
| Pinkel D, Albertson DG, Comparative genomic hybridization. Annu Rev Genomics Hum Genet6:331-54 2005 |
| PubMed ID: 16124865 |
| |
| Concannon P, Gatti RA, Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat10(2):100-7 1997 |
| PubMed ID: 9259193 |
| |
| Watters D, Khanna KK, Beamish H, Birrell G, Spring K, Kedar P, Gatei M, Stenzel D, Hobson K, Kozlov S, Zhang N, Farrell A, Ramsay J, Gatti R, Lavin M, Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. Oncogene14(16):1911-21 1997 |
| PubMed ID: 9150358 |
| |
| Wei S, Charmley P, Concannon P, Organization, polymorphism, and expression of the human T-cell receptor AV1
subfamily. Immunogenetics45(6):405-12 1997 |
| PubMed ID: 9089098 |
| |
| Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, Shiloh Y, Concannon P, Good RA, Gatti RA, Ataxia-telangiectasia: mutations in ATM cDNA detected by protein- truncation screening. Am J Hum Genet59:40-4 1996 |
| PubMed ID: 8659541 |
| |
| Chen H, Tyrkus M, Cohen F, Woolley PV Jr, Mayeda K, Bhogaonker A, Espirtu CE, Simpson W, Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27). Clin Genet9:631-7 1976 |
| PubMed ID: 1277576 |
| Passage Frozen |
3 |
| 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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