GM25887
LCL from B-Lymphocyte
Description:
CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
ISODICENTRIC CHROMOSOME
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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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More than one race
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Subject Type
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trio
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Ethnicity
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Caucasian/Asian
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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
|
proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XX,+idic(15)(q13)[22].arr[hg19] 15q11.1q13.3(20,016,315-32,679,617)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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| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Female |
| Racial Category |
More than one race |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Additional Information: |
LACK OF COORDINATION |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Additional Information: |
SHORT STATURE |
| Developmental Milestones |
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| Additional Information: |
DELAYED DEVELOPMENT |
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
Clinically affected; delay in development, short stature, lack of coordination, microarray revealed two-copy gain within 15q11.1q13.2 (chr15: 20,016,315-32,679,617), and an interstitial duplication within 5q21.2 (chr5: 103,689,369-103,948,223); karyotypic analysis revealed an additional isodicentric chromosome 47,XX,+idic(15)(pter->q13::q13->pter); mother and father are GM25888 and GM25889, respectively. |
| 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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