Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Cell Type
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Fibroblast
|
Transformant
|
Untransformed
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Race
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Black/African American
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Relation to Proband
|
proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
|
46,XX,der(9)t(9;16)(p22;q23)pat.arr 4q31.22(145061541-145163047)x1,9p24.3p22.3(36586-15507870)x1,16q23.2q24.3(79632237-88815024)x3
|
Species
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Homo sapiens
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Common Name
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Human
|
Remarks
|
|
Passage Frozen |
7 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
Cytogenetics |
Chromosome 16: DERIVATIVE CHROMOSOME Aneuploid Segment (+)16q23>16qter |
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Chromosome 16: DERIVATIVE CHROMOSOME Trisomic Segment 16q23>16qter |
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Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (-)9pter>9p22 |
Remarks |
Congen heart disease; arthrogryposis, maximal at knees & elbows; hypoplastic left kidney & left uterine horn; discoid, retroperitoneal spleen; microcephaly; hypotonia; abnor, flat face; prom occiput; sml mouth; wide-spaced nipples |
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 |
|
Callen DF, Doggett NA, Stallings RL, Chen LZ, Whitmore SA, Lane SA, Nancarrow JK, Apostolou S, Thompson AD, Lapsys NM, et al, High-resolution cytogenetic-based physical map of human chromosome 16. Genomics13:1178-85 1992 |
PubMed ID: 1505951 |
Passage Frozen |
7 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
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