Description:
SECKEL SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
|
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
|
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Ethnicity
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JEWISH
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|
Family Member
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1
|
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Relation to Proband
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proband
|
|
Confirmation
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Clinical summary/Case history
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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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|
| PDL at Freeze |
6.58 |
| Passage Frozen |
8 |
| |
| 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 18: ANEUPLOID Trisomic Segment 18pter>18qter |
|
Chromosome 7: ANEUPLOID Trisomic Segment 7pter>7qter |
| Remarks |
Extreme microcephaly; height and weight below the 5th percentile; limited elbow extension; severe mental retardation; easy bruisability; no secondary sexual development; 46,XX/47,XX,+7/47,XX,+18 (92%/4%/4%); mitotic instability; see GM09703 Lymphoid. |
| Pennarun G, Hoffschir F, Revaud D, Granotier C, Gauthier LR, Mailliet P, Biard DS, Boussin FD, ATR contributes to telomere maintenance in human cells Nucleic acids research38:2955-63 2010 |
| PubMed ID: 20147462 |
| |
| Wilson PF, Nham PB, Urbin SS, Hinz JM, Jones IM, Thompson LH, Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation Mutation research683:91-7 2009 |
| PubMed ID: 19896956 |
| Passage Frozen |
8 |
| Split Ratio |
1:5 |
| 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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