GM24383
LCL from B-Lymphocyte
Description:
PFEIFFER SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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Hispanic/Latino
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Ethnicity
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Mexican, German, Irish
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Country of Origin
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USA
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Family History
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N
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; symptom onset at birth; diagnosed at birth; prenatal history includes: breach position and decreased fetal movements; acrocephaly; dolichocephaly; craniosynostosis: fusion of sagittal suture and partial fusion of bi-coronal and lambdoid sutures; left front bone is smaller and slopes back posteriorly with depression of the left mid face and pulling up of the left orbit posterolaterally; partial and focal left coronal synostosis; frontal bossing related to sagittal synostosis; fourth ventricle is midline; prominent right-sided extra-axial spaces that seem to represent subarachnoid fluid; dysmorphic facial features; eyes proptosed; syndactyly of 2nd and 3rd toe; large great toe; toe nails spoon-shaped; gross motor delay; speech delay; CT scan and x-ray support diagnosis; surgeries include endoscopic craniosynostosis repair at 8 weeks. |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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