GM13992
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
DGAP
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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HISPANIC
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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,X,t(X;15)(p22.2;q26).ish t(X;15)(p22.2;q26)(STS-,DXS1140-;STS+,DXS1140+).arr(1-22,X)x2
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 15: TRANSLOCATION Breakpoint 15q26 t(X;15)15q26 |
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Chromosome X: TRANSLOCATION Breakpoint Xp22 t(X;15)Xp22 |
| Remarks |
Clinically affected; hirsutism; masculization; scoliosis; learning problems; height 149 cm (<30th %); weight 58.1 kg (50th%); head circumference 53 cm (25th%); increased hair over face and extremities; eyes unremarkable; inner canthal distance 3 cm; palpebral fissure distance 2.5 cm; ears 6 cm and unremarkable; nose unremarkable; face is unremarkable with the exception of hirsutism and masculization; high-arched palate; voice low and somewhat masculine; thorax shows secondary sexual development; hand total length is 15 cm and right third finger is 6 cm; fingernails are unremarkable; 2-3 syndactyly of the toes; no increased carrying angle of the arms; joints are unremarkable; skin is soft; tone, reflexes and strength is normal; normal gait; serum testosterone 59 ng/dl (normal range for females 10-55 ng/dl). |
| 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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| Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC, Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project American journal of human genetics82:712-22 2007 |
| PubMed ID: 18319076 |
| 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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