Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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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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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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47,XX,+der(22)t(16;22)(p13.3;q11.21)mat[32].arr[hg19] Xq28(154,120,735-154,565,719)x3,16p13.3(60,764-3,701,565)x3,22q11.1q11.21(16,994,980-30,857,448)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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| PDL at Freeze |
4.56 |
| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 16: DERIVATIVE CHROMOSOME Aneuploid Segment (+)16pter>16p13 |
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Chromosome 16: DERIVATIVE CHROMOSOME Trisomic Segment 16pter>16p13 |
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Chromosome 22: DERIVATIVE CHROMOSOME Aneuploid Segment (+)22pter>22q11 |
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Chromosome 22: DERIVATIVE CHROMOSOME Trisomic Segment 22pter>22q11 |
| Remarks |
Daughter of GM02324A Lymp; anophthalmia, congenital heart defect, increased simian crease, asymmetrical ear position, hypertrophic gingiva, widespread nipples, hypoplastic nails, frontal bossing, and flat nasal bridge; 2 maternal and 1 paternal A-globin gene cluster copies |
| Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023 |
| PubMed ID: 38201393 |
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| 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 |
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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 |
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| Hough CA, White BN, Holden JJ, Absence of lambda immunoglobulin sequences on the supernumerary chromosome of the "cat eye" syndrome. Am J Med Genet58:277-81 1995 |
| PubMed ID: 8533831 |
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| Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR, Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am J Hum Genet57:667-73 1995 |
| PubMed ID: 7668296 |
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| Nicholls RD, Jonasson JA, McGee JO, Patil S, Ionasescu VV, Weatherall DJ, Higgs DR, High resolution gene mapping of the human alpha globin locus. J Med Genet24:39-46 1987 |
| PubMed ID: 2879933 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| 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 |
5% fetal bovine serum Not inactivated |
| Supplement |
- |
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