Description:
TRANSLOCATED CHROMOSOME
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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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2
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Relation to Proband
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mother
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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,X,t(X;1)(Xqter>Xp22.1 or p22.13::1q24 or q25.1>1qter;1pter>1q24 or q25.1::Xp22.1 or p22.13>Xpter)
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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 1: TRANSLOCATION Breakpoint 1q24 t(X;1)1q24 |
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Chromosome 1: TRANSLOCATION Breakpoint 1q25 t(X;1)1q25 |
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Chromosome X: TRANSLOCATION Breakpoint Xp22 t(X;1)Xp22 |
| Remarks |
Son with the unbalanced translocation is tall, has mental retardation with unusual features, and some of the features of Klinefelter's syndrome; the normal X is late replicating; see GM10005 Lymphoid |
| Superti-Furga A, Rocchi M, Schafer BW, Gitzelmann R, Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin). Genomics17:463-7 1993 |
| PubMed ID: 8104875 |
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| Lebo RV, Chance PF, Dyck PJ, Redila-Flores MT, Lynch ED, Golbus MS, Bird TD, King MC, Anderson LA, Hall J, et al, Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region [published erratum appears in Hum Genet 1993 Apr;91(3):301] Hum Genet88:1-12 1991 |
| PubMed ID: 1683643 |
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| Sugawara O, Oshimura M, Koi M, Annab LA, Barrett JC, Induction of cellular senescence in immortalized cells by human chromosome 1. Science247:707-10 1990 |
| PubMed ID: 2300822 |
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| Grundy HO, Peltz G, Moore KW, Golbus MS, Jackson LG, Lebo RV, The polymorphic Fc gamma receptor II gene maps to human chromosome 1q. Immunogenetics29:331-9 1989 |
| PubMed ID: 2565886 |
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| Lebo RV, Anderson LA, Lau YF, Flandermeyer R, Kan YW, Flow-sorting analysis of normal and abnormal human genomes. Cold Spring Harb Symp Quant Biol51 Pt 1:169-76 1986 |
| PubMed ID: 3472713 |
| Passage Frozen |
4 |
| 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 |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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