Description:
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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Clinical summary/Case history
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ISCN
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46,X,t(X;16)(Xpter>Xq26::16q24>16qter; 16pter>16q24::Xq26>Xqter)
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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 |
12 |
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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 16: TRANSLOCATION Breakpoint 16q24 t(X;16)16q24 |
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Chromosome X: TRANSLOCATION Breakpoint Xq26 t(X;16)Xq26 |
| Remarks |
Congenital heart murmur; bilaterally enlarged kidneys; mild hearing loss; inguinal hernias; 46,X,t(X;16)(Xpter>Xq26: :16q24>16qter;16pter>16q24::Xq26>Xqter), balanced; normal X is late replicating; slow growing culture |
| 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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| Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G, GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics53:1-11 1998 |
| PubMed ID: 9787072 |
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| Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D, Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome [see comments] Nat Genet12:241-7 1996 |
| PubMed ID: 8589713 |
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| Simmers RN, Mulley JC, Hyland VJ, Callen DF, Sutherland GR, Mapping the human alpha globin gene complex to 16p13.2----pter. J Med Genet24:761-6 1987 |
| PubMed ID: 3430555 |
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| Callen DF, A mouse-human hybrid cell panel for mapping human chromosome 16. Ann Genet29:235-9 1986 |
| PubMed ID: 3495225 |
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| Murphy PD, Ruddle FH, Isolation and regional mapping of random X sequences from distal human X chromosome. Somat Cell Mol Genet11:433-44 1985 |
| PubMed ID: 2994237 |
| Passage Frozen |
12 |
| Split Ratio |
1:2 |
| 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 Heat Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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