Description:
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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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Race
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White
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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,XX,del(10)(p13p12).arr 10p13p12.1(13350741-25287295)x1,21q22.3(45556361-45876985)x3
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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 |
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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 10 |
Mathew et al (Ann Hum Genet 54:121-129,1990) analyzed DNA from this 46,XX,del(10) cell line in Southern blot hybridization experiments using a number of chromosome 10 markers to determine the copy numbers present. The following results were obtained: D10S17 (pter>p13) - 2 copies, D10S28 (pter>p13) - 2 copies, VIM (p13>p12) - 1 copy, and D10S34 (p12>p11) - 2 copies. |
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| Cytogenetics |
Chromosome 10: DELETION Aneuploid Segment (-)10p13>10p12 |
| Remarks |
Microcephaly, microphthalmia, and hypotelorism; father is GM03469A Lymphoid; both parents have normal karyotypes; gene copy numbers: D10S17-2, D10S28-2, VIM-1, and D10S34-2; same subject as GM21877 (sampled at age 6 weeks) |
| 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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| Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T, Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur J Hum Genet6:213-25 1998 |
| PubMed ID: 9781025 |
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| Mathew CG, Wakeling W, Jones E, Easton D, Fisher R, Strong C, Smith B, Chin K, Little P, Nakamura Y, et al, Regional localization of polymorphic markers on chromosome 10 by physical and genetic mapping. Ann Hum Genet54 ( Pt 2):121-9 1990 |
| PubMed ID: 1974407 |
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