Description:
CHROMOSOME DELETION
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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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Black/African American
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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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46,XY,del(2)(p25.1p23).arr 2p25.1p23.3(10238660-27005382),15q13.3(30226524-30644762)x1
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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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| PDL at Freeze |
5.48 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 2: DELETION Aneuploid Segment (-)2p25>2p23 |
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Chromosome 2: DELETION Aneuploid Segment (-)p25.1->p23 |
| Remarks |
Severe growth and mental retardation; multiple anomalies; heterozygous BA phenotype at ACP-1 locus; see GM09216 Lymphoid |
| 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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| 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 |
| |
| Slate DL, Ruddle FH, Fibroblast interferon in man is coded by two loci on separate chromosomes. Cell16:171-80 1979 |
| PubMed ID: 84714 |
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| Zackai E, Emanuel B, Mellman WJ, Aronson MM, Bozarth B, Greene AE, Coriell LL, Deletion of the short arm of chromosome 2 from a subject with congenital anomalies. Repository identification no. GM-1138. Cytogenet Cell Genet18:108 1977 |
| PubMed ID: 862431 |
| Cumulative PDL at Freeze |
10.7 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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