Description:
APERT 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 |
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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
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Relation to Proband
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proband
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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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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Acrocephalosyndactyly; syndactyly of all 4 extremities including partial bony fusion in phalanges and fusion of thumb and 1st 2 fingers bilaterally (atypical); facial anomalies with hypertelorism, cleft palate and large mandible; 46,XY in PBL |
| NCBI GTR |
101200 APERT SYNDROME |
| OMIM |
101200 APERT SYNDROME |
| Omim Description |
ACROCEPHALOSYNDACTYLY, TYPE I; ACS1 |
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ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED |
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ACS IAPERT-CROUZON DISEASE |
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ACS II, INCLUDED |
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APERT SYNDROME |
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VOGT CEPHALODACTYLY, INCLUDED |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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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