GM24645
LCL from B-Lymphocyte
Description:
CRANIOSYNOSTOSIS, SYNDROMIC
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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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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 age 18 months by neurosurgeon; sagittal craniosynostis and partial coronal craniosynostosis; severe scaphocephaly; bifrontal bossing; inferior sloping of the poster one-third of the head; elongation of head; bicipital narrowing; slight speech delay; testing includes pre-surgical noncontrast head CT scan, revealing complete fusion of sagittal suture with extensive dolichocephalic formity of the skull, partial fusion of the coronol and squamosal sutures, with normal brain and craniocervical junction; surgeries include craniectomy and osteotomies. |
| Split Ratio |
1:4 |
| 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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