NA03013
DNA from Fibroblast
Description:
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
Quantity |
50 µg |
Quantitation Method |
Please see our FAQ |
Cell Type
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Fibroblast
|
Transformant
|
Untransformed
|
Sample Source
|
DNA from Fibroblast
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,del(4)(q31.3).arr 4q31.3q35.2(153482307-191195125)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 4: DELETION Aneuploid Segment (-)4q31>4qter |
Remarks |
Multiple 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 |
|
Schmutz SM, Simpson NE, Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum Genet64:134-8 1983 |
PubMed ID: 6350155 |
|
Schmutz, Suggested assignment of peptidase S(PEPS ) to 4p12>q12 by exclusion using gene dosage. Cytogenet Cell Genet32:315 (1982):134-8 1982 |
PubMed ID: 6350155 |
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