GM22006
LCL from B-Lymphocyte
Description:
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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More than one race
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Ethnicity
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SOUTH AFRICAN
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Country of Origin
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SOUTH AFRICA
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Family Member
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1
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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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47,XXX[7]/45,X[1]/44,XX,-7,-8[1]/44,XX,-7,-16[1]/45,XX,-6[1]/45,XX,-13[1]/45,XX,-15[1]/45,XX,-20[1]/47,XX,+4[1]/47,X,+4,+21[1]/47,XX,+4[1]/47,XX,+6[1]/47,XX,+12[1]/46,XX[181]
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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 X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter |
| Remarks |
Clinically affected; at birth she had poor sucking reflex; two episodes of pneumonia before age 6 months; developmental delay; normal MRI of brain; microcephaly; hypotelorism; epicanthal folds; two cafe-au-lait spots; large capillary hemangioma posteriorly over her left chest present since birth |
| 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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