Description:
DERIVATIVE CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
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Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XY,der(10)(10pter->10q26::6q23->6qter).ish der(10)(D6S2522+,CEP10+)
|
Species
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Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.53 |
Passage Frozen |
5 |
|
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 10: DERIVATIVE CHROMOSOME Aneuploid Segment (-)10q26>10qter |
|
Chromosome 10: DERIVATIVE CHROMOSOME Aneuploid Segment (+)10pter->10q26 |
Remarks |
Hypotonia; hypertelorism; down-slanting palpebral fissures; beaked nose; deepset eyes; low-set ears; anteverted nares; short, webbed neck; tapering fingers with pointed nails; partial syndactyly; hypospadius |
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 |
Cumulative PDL at Freeze |
9 |
Passage Frozen |
5 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
10% fetal bovine serum Not inactivated |
Substrate |
None specified |
Supplement |
- |
|
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