GM22625
LCL from B-Lymphocyte
Description:
POTOCKI-SHAFFER SYNDROME
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
Heritable Diseases
dbGaP |
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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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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,XX.arr 5q35.1(170909409-172196711)x1,11p12p11.2(42619976-44128032)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 LINE assay |
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| Cytogenetics |
Chromosome 11: DELETION Aneuploid Segment (-)11p11.2>11p12 |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Female |
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| Data Elements |
| Clinical Element Type: Potocki-Shaffer Syndrome |
| (Baseline) |
| Inheritance |
| Parental origin of del(11) |
Paternal |
| Skull |
| Parietal foramen |
Yes |
| Brachycephaly |
Yes |
| Turricephaly |
Unknown |
| Craniofacial dysostosis |
Unknown |
| Microcephaly |
No |
| Large fontanel |
Yes |
| Facial |
| Aniridia |
No |
| Sparse lateral eyebrows |
No |
| Epicanthal folds |
No |
| Prominent nasal bridge |
No |
| Prominent nose |
No |
| Short philtrum |
Yes |
| Downturned mouth |
No |
| Protuberant ears |
Unknown |
| Skeletal |
| Short stature |
Yes |
| Multiple exostoses |
No |
| Scoliosis |
No |
| Osteochondroma |
Yes |
| Limbs |
| Cutaneous syndactyly between fingers 2 and 5 |
Unknown |
| Brachydactyly |
Yes |
| Neurological |
| Developmental delay/mental retardation |
No |
| Central nervous system malformation |
No |
| Corpus callosum |
Unknown |
| Sensorineural hearing loss |
No |
| Genitourinary |
| Hypospadias |
Not Applicable |
| Cryptorchidism |
Not Applicable |
| Micropenis |
Not Applicable |
| Renal malformation |
Unknown |
| Wilms tumor |
No |
| Remarks |
Clinically affected; parietal foramen; brachycephaly; large fontanel; short philtrum; short stature; brachydactyly; osteochondroma |
| 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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| Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG, Construction of a natural panel of 11p112 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome European journal of human genetics : EJHG13:528-40 2005 |
| PubMed ID: 15852040 |
| Split Ratio |
1:3 |
| 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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