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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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,del(7)(pter>q34:)
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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 7: DELETION Aneuploid Segment (-)7q34>7qter |
| Remarks |
Growth and psychomotor retardation; mild dysmorphic features; bilateral coloboma of retina and choroidea; normal factor XII (Hageman) level |
| Gurrieri F, Trask BJ, van den Engh G, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, Dietz-Band J, Vergnaud G, Scherer SW, et al, Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet3:247-51 1993 |
| PubMed ID: 8485580 |
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| Rommens JM, Zengerling S, Burns J, Melmer G, Kerem BS, Plavsic N, Zsiga M, Kennedy D, Markiewicz D, Rozmahel R, et al, Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene. Am J Hum Genet43:645-63 1988 |
| PubMed ID: 2903665 |
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| Zengerling S, Tsui LC, Grzeschik KH, Olek K, Riordan JR, Buchwald M, Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7 [published erratum appears in Am J Hum Genet 1987 Aug;41(2):330] Am J Hum Genet40:228-36 1987 |
| PubMed ID: 3472464 |
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| Bartels I, Grzeschik KH, Cooper DN, Schmidtke J, Regional mapping of six cloned DNA sequences on human chromosome 7. Am J Hum Genet38:280-7 1986 |
| PubMed ID: 3456704 |
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| Morton CC, Duby AD, Eddy RL, Shows TB, Seidman JG, Genes for beta chain of human T-cell antigen receptor map to regions of chromosomal rearrangement in T cells. Science228:582-5 1985 |
| PubMed ID: 3983642 |
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| Taysi K, Burde RM, Rohrbaugh JR, Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. Ann Genet25:159-61 1982 |
| PubMed ID: 6982666 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| 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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