Description:
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Cell Type
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Fibroblast
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|
Transformant
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Untransformed
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|
Race
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White
|
|
Family Member
|
2
|
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Relation to Proband
|
father
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,inv(6)(p24p21).arr 16p12.2(21441804-21650621)x1
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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 |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 6: INVERSION Breakpoint 6p21 inv(6)6p21 |
|
Chromosome 6: INVERSION Breakpoint 6p24 inv(6)6p24 |
| Remarks |
Clinically unaffected; 46,XY,inv(6), (pter>p24::p21>p24::p21>qter); formerly GM01515 |
| 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 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| 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 |
- |
|