NA03240
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,XY,del(7)(q35).arr 3q12.2(101822745-101925168)x4,7p22.3(52898-2019558)x3,7q35q36.3(144641514-158812469)x1
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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 |
8 |
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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 |
Microcephaly and other congenital anomalies |
| 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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| Mattarucchi E, Marsoni M, Passi A, Lo Curto F, Pasquali F, Porta G, Establishment and study of different real-time polymerase chain reaction assays for the quantification of cells with deletions of chromosome 7 The Journal of molecular diagnostics : JMD8:218-24 2006 |
| PubMed ID: 16645208 |
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| Zhou X, Mok SC, Chen Z, Li Y, Wong DT, Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array Human genetics115:327-30 2004 |
| PubMed ID: 15290239 |
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| Mackay M, Fantes J, Scherer S, Boyle S, West K, Tsui LC, Belloni E, Lutz E, Van Heyningen V, Harmar AJ, Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. Genomics37:345-53 1996 |
| PubMed ID: 8938447 |
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| 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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