GM14162
LCL from B-Lymphocyte
Description:
WILLIAMS-BEUREN SYNDROME; WBS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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Family Member
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1
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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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ISCN
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46,XY.ish del(7)(q11.23q11.23)(ELN-).arr 7q11.23(72337519-73780028)x1
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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 Nucleoside Phosphorylase, Glucose-6-phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| ELASTIN |
CCR FISH analysis with a probe for the elastin gene at 7q11.23 showed one of the chromosomes 7 to be deleted for the elastin gene for this Williams syndrome subject. |
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| Cytogenetics |
Chromosome 7: DELETION Aneuploid Segment (-)7q11>7q11 |
| Remarks |
Clinically affected; feeding difficulty, vomiting/GE reflux; failure to thrive; prolonged colic; overly friendly personality; short attention span; hyperacusis; anxiety; visuo-spatial problems; hyperverbal speech; good long-term memory; motor delay; language delay; bitemporal narrowing; epicanthal folds/flat nasal bridge; strabismus; short nose/anteverted nares; small, widely-spaced teeth; periorbital fullness; medial eyebrow flare; stellate iris pattern; bulbous/full nasal tip; prominent lips; malocclusion; supravalvular aortic stenosis; peripheral pulmonic stenosis; cardiac defects; hypertension; hoarse voice; long trunk; inguinal hernia; joint limitation; abnormal gait; hypercalcemia; hallux valgus; sacral crease; soft/velvety skin; frequent urination/delayed urinary continence; strong attraction to music/perfect pitch; early puberty; prominent veins/muscles; preoccupation with spinning/rhythmic movements |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A, Submicroscopic deletion in patients with williams-beuren syndrome influences expression levels of the nonhemizygous flanking genes American journal of human genetics79:332-41 2006 |
| PubMed ID: 16826523 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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