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,X,del(X)(pter>q21:)
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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 |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (-)Xq21>Xqter |
| Remarks |
Primary ovarian failure; secondary amenorrhea; increased luteinizing and follicle stimulating hormones; right ovary biopsy; same patient as GM03828 |
| Markaki Y, Gan Chong J, Wang Y, Jacobson EC, Luong C, Tan SYX, Jachowicz JW, Strehle M, Maestrini D, Banerjee AK, Mistry BA, Dror I, Dossin F, Schöneberg J, Heard E, Guttman M, Chou T, Plath K, Xist nucleates local protein gradients to propagate silencing across the X chromosome Cell184:6174-6192.e32 2020 |
| PubMed ID: 34813726 |
| |
| Chadwick BP, Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology184:6174-6192.e32 2019 |
| PubMed ID: 31776830 |
| |
| Riddell DC, Wang HS, Beckett J, Chan A, Holden JJ, Mulligan LM, Phillips MA, Simpson NE, Wrogemann K, Hamerton JL, et al, Regional localization of 18 human X-linked DNA sequences. Cytogenet Cell Genet42:123-8 1986 |
| PubMed ID: 3460742 |
| |
| Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet36:954-64 1984 |
| PubMed ID: 6093508 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| 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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