NA00945
DNA from Fibroblast
Description:
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Asian
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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(2)(qter>p23.1::p25.1>pter)
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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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| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 2: DELETION Aneuploid Segment (-)2p25>2p23 |
| Remarks |
Failure to thrive; severe retardation; heterozygous BA phenotype at ACP-1 locus; Cantonese |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
| |
| 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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| Neidich J, Zackai E, Aronson M, Emanuel BS, Deletion of 2p: a cytogenetic and clinical update. Am J Med Genet27:707-10 1987 |
| PubMed ID: 3477100 |
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| Shiloh Y, Shipley J, Brodeur GM, Bruns G, Korf B, Donlon T, Schreck RR, Seeger R, Sakai K, Latt SA, Differential amplification, assembly, and relocation of multiple DNA sequences in human neuroblastomas and neuroblastoma cell lines. Proc Natl Acad Sci U S A82:3761-5 1985 |
| PubMed ID: 3858848 |
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| Howard BV, Fields RM, Mott DM, Savage PJ, Nagulesparan M, Bennett PH, Diabetes and cell growth--lack of differences in growth characteristics of fibroblasts from diabetic and nondiabetic Pima Indians. Diabetes29:119-24 1980 |
| PubMed ID: 7353728 |
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| Emanuel BS, Zackai EH, Van Dyke DC, Swallow DM, Allen FH, Mellman WJ, Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23. Am J Med Genet4:167-72 1979 |
| PubMed ID: 293131 |
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