GM21890
Fibroblast from Skin, Unspecified
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 |
Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Family Member
|
1
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Relation to Proband
|
proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
|
46,XY,t(4;15)(q27;q11.2)[18]
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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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PDL at Freeze |
7.9 |
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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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 Lymphoid GM21891. |
Huang WK, Wong SZH, Pather SR, Nguyen PTT, Zhang F, Zhang DY, Zhang Z, Lu L, Fang W, Chen L, Fernandes A, Su Y, Song H, Ming GL, Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells Cell stem cell28:1657-1670.e10 2020 |
PubMed ID: 33961804 |
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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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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 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
10% |
Percent O2 |
AMBIENT |
Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Supplement |
- |
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