Description:
INVERTED DUPLICATION DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
Heritable Diseases
dbGaP |
| Class |
Disorders of Uncertain Biochemical Etiology |
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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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White
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and In situ hybridization
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ISCN
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46,XX,der(4)dup(4p)inv(4)(p14p15.33).ish der(4)dup(4p)inv(4)(p14p15.33)(wcp4+,D4S96-).arr 4p16.3p15.33(56706-14790273)x1,4p15.33p14(14790934-36489063)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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| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 4: DELETION Aneuploid Segment (+)4p15.32>4p15.1 |
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Chromosome 4: DELETION Aneuploid Segment (-)4pter>4p15.32 |
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Chromosome 4: DUPLICATION Aneuploid Segment (+)4p15.32>4p15.1 |
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Chromosome 4: DUPLICATION Aneuploid Segment (-)4pter>4p15.32 |
| Remarks |
Microcephaly; 'Greek helmut facies' with wide nares; sml orbits; micrognathia; bilateral low-set ears; short neck; prob contracture abnors; bilat shortening of 1st & 5th toes; bilat clinodactyly of 5th finger; small placenta |
| 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 2022 |
| PubMed ID: 35039224 |
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| 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 |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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