GM21891
LCL from B-Lymphocyte
Description:
PRADER-WILLI SYNDROME; PWS
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities Heritable Diseases dbGaP |
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
|
Transformant
|
Epstein-Barr Virus
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Sample Source
|
LCL from B-Lymphocyte
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Family Member
|
1
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Relation to Proband
|
proband
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Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,t(4;15)(4pter->4q27::15q11.2->15qter;15pter->15q11.2::4q27->4qter).arr 16p11.2(29520995-30085908)x1
|
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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Cytogenetics |
Chromosome 15: TRANSLOCATION Breakpoint 15q11.2 |
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Chromosome 4: TRANSLOCATION Breakpoint 4q27 |
Remarks |
Clinically affected; reduced fetal movements in utero; poor muscle tone, weak cry, excessive sleepiness and undescended testicles as a newborn; during infancy: poor suck and prolonged feeding times, but no tube feeding; suspected of having absence seizures of 20 seconds duration; giggling; eye-rolling; left estropia corrected surgically; during childhood: sticky saliva, dry mouth, skin picking and marked tolerance to pain; sleep tests confirmed narcolepsy; small hands and feet; delayed puberty; short stature; treated with testosterone; at age 15 he had a left orchidopexy and removal of a dysplastic intra-abdominal right testis; reduced hypothalmic function; mild developmental delayhyperphagia; see Fibroblast GM21890 |
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 |
|
Schüle B, Albalwi M, Northrop E, Francis DI, Rowell M, Slater HR, Gardner RJ, Francke U, Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q112) associated with Prader-Willi syndrome BMC medical genetics [electronic resource]6:18 2005 |
PubMed ID: 15877813 |
View |
FISH t(4;15)(q27;q11.2) ; D15S11 probe |
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FISH t(4;15)(q27;q11.2) ; D15S11 probe |
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FISH t(4;15)(q27;q11.2) ; SNRPN probe |
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FISH t(4;15)(q27;q11.2) ; SNRPN probe |
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FISH t(4;15)(q27;q11.2) ; GABRB3 |
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FISH t(4;15)(q27;q11.2) ; GABRB3 |
|
karyotype t(4;15)(q27;q11.2) |
|
karyotype t(4;15)(q27;q11.2) |
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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