NA04250
DNA from Fibroblast
Description:
RETINOBLASTOMA, SPORADIC
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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 |
Ophthalmologic Disorders |
| Alternate IDs |
GM17052 [RETINOBLASTOMA, SPORADIC] |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Asian
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Ethnicity
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JAPANESE
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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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arr 2q13(110212011-110519397)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 Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; diagnosed at 3 months of age with bilateral retinoblastoma; poor weight gain, weak sucking, cyanosis, and abnormal eye movement; slight normochromic anemia; developmental retardation; gross ophthalmological exam revealed leukocoria and sluggish pupillary light response in right eye; detailed exam of the right fundus showed a solid tumor with total retinal detachment, and the left fundus showed two elevated tumor masses; histological examination of the enucleated right eye revealed a well-differentiated retinoblastoma with focal necrosis and numerous rosette formation; procedures include: enucleation of right eye, transscleral cryocoagulation of the left eye, photocoagulation, and radiation; translocation of the long arm of chromosome 13 to the short arm of the X chromosome, karyotype: 46,XX,t(X;13)(p22; q13) in leukocytes; translocated X found to be preferentially inactivated in skin fibroblasts with the inactivation spreading over the translocated chromosome 13; chromosome studies of the parents and sibling revealed no abnormalities; erythrocyte esterase D type 1-1 identified in the proband, sibling and both parents. |
| Moulay Lakhdar I, Ferlazzo ML, Al Choboq J, Berthel E, Sonzogni L, Devic C, Granzotto A, Thariat J, Foray N, Fibroblasts from Retinoblastoma Patients Show Radiosensitivity Linked to Abnormal Localization of the ATM Protein Current eye research:1-12 2020 |
| PubMed ID: 32862699 |
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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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| Sanford KK, Parshad R, Price FM, Tarone RE, Benedict WF, Cytogenetic responses to G2 phase x-irradiation of cells from retinoblastoma patients. Cancer Genet Cytogenet88:43-8 1996 |
| PubMed ID: 8630978 |
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| Schor SL, Schor AM, Durning P, Rushton G, Skin fibroblasts obtained from cancer patients display foetal-like migratory behaviour on collagen gels. J Cell Sci73:235-44 1985 |
| PubMed ID: 4019594 |
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| Hida T, Kinoshita Y, Matsumoto R, Suzuki N, Tanaka H, Bilateral retinoblastoma with a 13qXp translocation Journal of pediatric ophthalmology and strabismus17:144-6 1980 |
| PubMed ID: 7391906 |
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