NA01549
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 |
10 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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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(8)(p21).arr 8p23.3p21.3(36385-19259291)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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| CATHEPSIN B |
Fong et al (Hum Genet 89:10-12,1992) reported that fluorescence in situ hybridization analysis of this fibroblast cell culture using a biotinylated cosmid clone probe for cathepsin B showed that in comparison to normal fibroblasts, this culture with a 46,XY,del(8)(qter> p21:) karyotype had far fewer cells that showed two signals. |
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| Cytogenetics |
Chromosome 8: DELETION Aneuploid Segment (-)8pter>8p21 |
| Remarks |
Multiple congenital anomalies and mental retardation; FISH analysis showed the del(8) to be negative for cathepsin B |
| 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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| Fong D, Chan MM, Hsieh WT, Menninger JC, Ward DC, Confirmation of the human cathepsin B gene (CTSB) assignment to chromosome 8. Hum Genet89:10-2 1992 |
| PubMed ID: 1577456 |
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