GM50205
LCL from B-Lymphocyte
Description:
CRI-DU-CHAT SYNDROME
DERIVATIVE CHROMOSOME
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
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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Race
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White
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Ethnicity
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ITALIAN/GERMAN/IRISH
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Family History
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N
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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,der(5)del(5)(p15.3)dup(5)(p15.3p14).ish der(5)del(5)(p15.3)dup(5)(p15.3p14)(C84c11/T3-,D5S23/D5S721++,EGR1+,D5S2907+).arr 5p15.33p15.31(68520-6190451)x1,5p15.31p14.3(6191166-21481804)x3
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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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| Remarks |
Mild developmental delay; mild neonatal hyperbilirubinemia; high-pitched cry at birth; left esotropia partially corrected by surgery; normal growth and head size; long philtrum; thin upper lip; tone and tendon reflexes are normal |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2022 |
| PubMed ID: 35039224 |
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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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| Sreekantaiah C, Kronn D, Marinescu RC, Goldin B, Overhauser J, Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. Am J Med Genet86(3):264-8 1999 |
| PubMed ID: 10482877 |
| View |
FISH Spectrum Green - 5pter C84C11/T3, Spectrum Orange - 5qter D5S2907 |
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FISH Spectrum Green - 5pter C84C11/T3, Spectrum Orange - 5qter D5S2907 |
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FISH Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2) |
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FISH Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2) |
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karyotype Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2) |
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karyotype Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2) |
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karyotype Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2) |
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karyotype Cri-Du-Chat: Spectrum Green - 5p D5S23/D5S721 (5p15.2), Spectrum Orange - 5q EGR-1 (5q15.2) |
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MicroArray Chromosome 5 |
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MicroArray Karyotype View of the copy number segment changes detected by the Affymetrix Genome Wide Human SNP Array 6.0 |
| 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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