GM25270
LCL from B-Lymphocyte
Description:
CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
DUPLICATED CHROMOSOME
ISODICENTRIC CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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Cell Type
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B-Lymphocyte
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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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Not Hispanic/Latino
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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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N
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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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47,XY,+idic(15).ish idic(15)(q11.1)(D15Z4++,SNRPN++).arr[hg19]15q11.1q13.3(20016315-32679617)x4
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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; diagnosed at 18 months of age by geneticist; C-section performed at full term due to failure to progress; first pregnancy conceived via ICSI; hypotonia in infancy; slight epicanthal folds; flat nasal bridge; cafe au lait spot on arm; mild thinning of parietooccipital and occipital white matter; mild hypotelorism; fine motor delay; gross motor delay; developmental delay; speech delay; isodicentric 15q; chromosome duplication of maternal origin, determined by karyotype, FISH, and BAC array; D15S817, D15S122, D15S97, and GABRA5 are triallelic with biallelic maternal contribution; parental chromosomes are normal (parents not in repository). |
| Wang NJ, Liu D, Parokonny AS, Schanen NC, High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage. Am J Hum Genet75:267-281 2004 |
| PubMed ID: 15197683 |
| 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 |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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