GM25436
LCL from B-Lymphocyte
Description:
CHROMOSOME 16P12.1 DELETION SYNDROME
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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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1
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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46,XX.arr[hg19]16p12.2(21807854-22442008)x1 mat
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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; positive for 16p12.1 deletion; had chronic ear infections as child requiring PE tube placement - now resolved and tubes removed; dysmorphic features; muscle weakness; respiratory problems; eating problems; constipation; global developmental delay; severe expressive language disorder; attention deficit disorder/short attention span; sensory integration disorder; tantrums; self-injurious behavior (head banging); father (GM25435), mother (GM25436), and siblings (GM25434, GM25437) - see extended family 3227. |
| 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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