Description:
CHROMOSOME 1P36 DELETION SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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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 before cell line submission to CCR
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ISCN
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46,XX
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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 |
| |
| Remarks |
de novo 1p36 deletion; mother is GM22903 and father is GM22904. |
| 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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| Gajecka M, Mackay KL, Shaffer LG, Monosomy 1p36 deletion syndrome American journal of medical genetics Part C, Seminars in medical genetics145C:346-56 2007 |
| PubMed ID: 17918734 |
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