NA01893
DNA from Fibroblast
Description:
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Cell Type
|
Fibroblast
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Transformant
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Untransformed
|
Sample Source
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DNA from Fibroblast
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,del(9)(pter>q11::q21.3>qter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
6 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 9: DELETION Aneuploid Segment (-)9q11>9q21 |
Remarks |
Mental retardation, multiple anomalies, seizures |
Nobori T, Hexdall LE, Carson DA, A polymorphic region defined by pCN2 (the 3' nontranslated region of N- ras) maps to chromosome 9cen-p12. Hum Genet87:433-7 1991 |
PubMed ID: 1879830 |
|
Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet36:954-64 1984 |
PubMed ID: 6093508 |
|
Meager A, Graves HE, Shuttleworth J, Zucker N, Interferon production: variation in yields from human cell lines. Infect Immun25:658-63 1979 |
PubMed ID: 489124 |
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