GM06136
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
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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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Country of Origin
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USA
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Family Member
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2
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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,der(21)t(10;21)(p11.2;q22.2)mat.arr 10p15.3p11.22(94426-28596675)x3,21q22.2q22.3(41215522-46921373)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 Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 10: DERIVATIVE CHROMOSOME Aneuploid Segment (+)10pter>10p11 |
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Chromosome 10: DERIVATIVE CHROMOSOME Trisomic Segment 10pter>10p11 |
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Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (-)21q22>21qter |
| Remarks |
Clinically affected; multiple congenital anomalies; bilateral cleft lip and palate; absent patellae; severe calcaneo valgus & metatarsus abductus |
| 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 2021 |
| PubMed ID: 35039224 |
| |
| 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 |
| |
| Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J, Genomic analysis of partial 21q monosomies with variable phenotypes European journal of human genetics : EJHG19:235-8 2010 |
| PubMed ID: 20823914 |
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| Hattori M, Toyoda A, Ichikawa H, Ito T, Ohgusu H, Oishi N, Kano T, Kuhara S, Ohki M, Sakaki Y, Sequence-tagged NotI sites of human chromosome 21: sequence analysis and mapping. Genomics17:39-44 1993 |
| PubMed ID: 8406470 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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