NA21889
DNA from Fibroblast
Description:
PRADER-WILLI SYNDROME; PWS
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from Fibroblast
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Race
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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Relation to Proband
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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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46,XY,t(4;15)(q27;q11.2).arr[hg19] 15q11.1q11.2(20,590,014-22,681,064)x3,15q14(34,695,309-34,830,932)x1,15q26.2(97,904,695-98,248,738)x1,15q26.3(98,672,640-98,723,679)x1,15q26.3(98,849,829-99,686,821)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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| Passage Frozen |
2 |
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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 |
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Chromosome 4: TRANSLOCATION Breakpoint 4q27 |
| Remarks |
Clinically affected; at age 19 months was diagnosed with IgG-4 deficiency and therapy with intravenous gamma-globulin was started; undescended testicles did not respond to beta-human chorionic gonadotropin; diagnosed with hypertension at age 2; hypotonia; failure to thrive; poor suck; eating behavior leading to weight gain; narrow bifrontal diameter; almond-shaped upslanted palpebral fissures; narrow arched palate; did not have small hands or feet |
| 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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| Gallagher RC, Pils B, Albalwi M, Francke U, Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome American journal of human genetics71:669-78 2002 |
| PubMed ID: 12154412 |
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| Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA, Prader-Willi syndrome is caused by disruption of the SNRPN gene American journal of human genetics64:70-6 1999 |
| PubMed ID: 9915945 |
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