Description:
POTOCKI-LUPSKI SYNDROME; PTLS
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities PIGI Consented Sample dbGaP |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
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
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Ethnicity
|
Irish/German
|
Country of Origin
|
USA
|
Family Member
|
2
|
Family History
|
N
|
Relation to Proband
|
mother
|
ISCN
|
46,XX.arr 13q12.11(19695316-20002412)x1
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Species
|
Homo sapiens
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Common Name
|
Human
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Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Remarks |
Clinically unaffected mother of an affected child (GM23053). |
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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