GM25586
LCL from B-Lymphocyte
Description:
POTOCKI-LUPSKI SYNDROME; PTLS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
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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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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Relation to Proband
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mother
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Confirmation
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Karyotypic analysis and Case history
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ISCN
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46,XX[25].arr[hg19] 17p11.2(16,709,534-20,433,857)x3
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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 mother of affected child (GM25585); diagnosed by neurologist at age 36 years; left eye esotropia corrected by surgery; seizures as a child; migraines; ventricular septal defect (VSD); constipation; gross motor delay; speech delay; autism; intellectual disability; received special education in school; unaffected parents are GM25593 and GM25594. |
| Split Ratio |
1:5 |
| 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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