NA01251
DNA from Fibroblast
Description:
INVERTED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
Pharmacogenetics |
| Alternate IDs |
GM17152 [INVERTED CHROMOSOME] |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Black/African American
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Country of Origin
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USA
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Family Member
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4
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Relation to Proband
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maternal half-brother
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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,inv(9)(pter>p11::q1?>p11::q1?> qter)mat
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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 |
| |
| Gene |
CYP2D6 |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 1 |
R296C; S486T; DEBRISOQUINE, ULTRARAPID METABOLISM OF |
| Identified Mutation |
ARG296CYS AND SER486THR |
| |
| Gene |
CYP2D6 |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 2 |
124030.0002; DEBRISOQUINE, POOR METABOLISM OF |
| Identified Mutation |
DEL; This allelic variant is also known as CYP2D6*5 and CYP2D6(D). In 1 of 42 poor metabolizer individuals (608902), Gough et al. (Nature 347:773-776, 1990) found homozygous deletion of the CYP2D locus. In a poor metabolizer, Gaedigk et al. (Am J Hum Genet 48:943-950, 1991) identified a homozygous 11.5-kb deletion associated with deletion of the entire CYP2D6 gene and total absence of P4502D6 protein in the liver. |
| Cytogenetics |
Chromosome 9: INVERSION Breakpoint 9p11 inv(9)9p11 |
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Chromosome 9: INVERSION Breakpoint 9q10 inv(9)9q10 |
| Remarks |
Clinically normal; mother is GM01252; maternal half-brother is GM01253 |
| Pope IS, Thuline HC, Aronson MM, Bozarth B, Greene AE, Coriell LL, Duplication of a segment of chromosome 3 in a subject with multiple congenital anomalies and a 47,XYY father, inversion of chromosomes 3 and 9 in the mother, and inversion of chromosome 9 in a brother. Repository identification Nos. GM-1253, GM-1252, and GM-1251. Cytogenet Cell Genet24:127-8 1979 |
| PubMed ID: 477407 |
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