NA01059
DNA from Fibroblast
Description:
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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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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,XX,del(7)(pter>q22::q32>qter)
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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 |
7 |
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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 Chromosome Analysis |
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| Cytogenetics |
Chromosome 7: DELETION Aneuploid Segment (-)7q22>7q32 |
| Remarks |
Hypertonia, seizures, feeding difficulty, and multiple congenital anomalies; hemizygous for DNA markers closely linked to cystic fibrosis |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Powers PA, Scherer SW, Tsui LC, Gregg RG, Hogan K, Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis. Genomics19:192-3 1994 |
| PubMed ID: 8188232 |
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| Bloch DB, Bloch KD, Iannuzzi M, Collins FS, Neer EJ, Seidman JG, Morton CC, The gene for the alpha i1 subunit of human guanine nucleotide binding protein maps near the cystic fibrosis locus. Am J Hum Genet42:884-8 1988 |
| PubMed ID: 3130752 |
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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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| Wainwright BJ, Scambler PJ, Williamson R, Regional localization of three probes closely linked to the cystic fibrosis locus by deletion analysis. Cytogenet Cell Genet44:101-2 1987 |
| PubMed ID: 3471388 |
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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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| Higginson G, Weaver DD, Magenis RE, Prescott GH, Haag C, Hepburn DJ, Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies. Clin Genet10:307-12 1976 |
| PubMed ID: 991439 |
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