TelCOFS02MA; Skin Fibroblast; Human (Homo sapiens) Item ID: ATCCRL4005
| Permits and Restrictions |
View Permits View Restrictions |
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| Tissue | Skin |
| Cell Type | Fibroblast |
| Product Format | frozen |
| Morphology | fibroblast |
| Culture Properties | Adherent |
| Biosafety Level |
2 [Cells contain SV40 viral DNA sequences]
Biosafety classification is based on U.S. Public Health Service Guidelines, it is the responsibility of the customer to ensure that their facilities comply with biosafety regulations for their own country. |
| Disease | COFS (Cerebro-Oculo-Facio-Skeletal Syndrome) |
| Age | 4 to 6 years |
| Gender | Female |
| Ethnicity | French/Canadian Aboriginal descent |
| Applications | CRL-4005 (TelCOFS02MA) is an hTERT-immortalized skin fibroblast cell line derived from a patient with Cerebro-Oculo-Facio-Skeletal Syndrome. This cell line carries a homozygous 2bp deletion in the ERCC6/CSB gene ORF, which generates the nonsense codon TGA at amino acid position 1240 and is expected to result in a truncated polypeptide missing the C-terminal 254 amino acids RefMeira LB, et al. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am. J. Hum. Genet. 66: 1221-1228, 2000. PubMed: 10739753 |
| Shipping Information | Frozen |
| Storage Conditions | Liquid nitrogen vapor phase |
| Karyotype | TelCOFS02MA is a diploid human cell line of female origin with a modal chromosome number of 46 (46,XX) indicated by cytogenetic analysis on G-banded metaphase cells. |
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| Images | |
| Derivation |
This cell line was immortalized by infection with a retroviral vector containing human telomerase cDNA. This cell line was derived from skin biopsy of a 4-6 years old girl of French/Canadian Aboriginal descent with Cerebro-Oculo-Facio-Skeletal Syndrome. The patient presented at birth with growth deficiency, microcephaly, and bilateral microphthalmia with cataracts. She failed to thrive and manifested profound developmental deficiency, recurrent pneumonia, and seizures. She had small, deep-set eyes, a prominent nasal root and tip, an overhanging upper lip, and mild micrognathia. Appendicular tone was increased with decreased axial tone, and she developed progressive contractures. Eruption of teeth was delayed until age 4 years, and she was inattentive to visual stimuli. She had no freckling, actinic keratoses, or photosensitivity, and she died at age 6 years RefMeira LB, et al. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am. J. Hum. Genet. 66: 1221-1228, 2000. PubMed: 10739753 |
| Clinical Data | Female 4-6 years old French/Canadian Aboriginal descent |
| Antigen Expression | Positive for Vimentin and PDGFRB (Platelet-derived growth factor receptor, beta polypeptide) |
| Receptor Expression | Positive for PDGFRB (Platelet-derived growth factor receptor, beta polypeptide) |
| Genes Expressed |
This cell line carries a homozygous 2bp deletion in the ERCC6/CSB gene ORF, which generates the nonsense codon TGA at amino acid position 1240 and is expected to result in a truncated polypeptide missing the C-terminal 254 amino acids (Meira L, et al. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am J Hum Genet. 2000 Apr;66(4):1221-8. PubMed: 10739753) |
| Comments | CRL-4005 (TelCOFS02MA) is an hTERT-immortalized skin fibroblast cell line derived from a patient with Cerebro-Oculo-Facio-Skeletal Syndrome. |
| Complete Growth Medium | The base medium for this cell line is ATCC-formulated Dulbecco's Modified Eagle's Medium, Catalog No. 30-2002. To make the complete growth medium, add the following components to the base medium: fetal bovine serum to a final concentration of 5%. |
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| Subculturing | Volumes used in this protocol are for 75 cm2 flasks; proportionally reduce or increase amount of dissociation solutions for culture vessels of other sizes. 1. Remove and discard spent medium. 2. Briefly rinse the cells with Dulbecco's Phosphate Buffered Saline (DPBS, ATCC® 30-2200) and discard rinse solution. 3. Add 2.0 to 3.0 mL room temperature 0.25% Trypsin-EDTA (ATCC® 30-2101) to the flask. Incubate at 37°C for 2-3 min (until cells have detached). 4. Neutralize trypsin by adding 5-8 mL of complete growth media. 5. Centrifuge cells at 250 x g for 5 min at room temperature. 6. Remove supernatant. Resuspend pellet in 6.0 to 8.0 mL Complete Growth Medium. 7. Count cells, and seed 4.0 x 10e3 to 6.0 x 10e3 viable cells/cm2 to new culture vessels. Medium Renewal: Every 2-3 days. |
| Culture Conditions | Atmosphere: air, 95%; carbon dioxide (CO2), 5% Temperature: 37°C |
| STR Profile |
D5S818: 7, 13 D13S317: 10, 12 D7S820: 10, 12 D16S539: 9, 11 vWA: 16, 17 Amelogenin: X TPOX: 11, 12 CSF1PO: 12 TH01: 7, 9.3 |
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| Name of Depositor | Errol C. Friedberg |
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| References |
Meira LB, et al. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am. J. Hum. Genet. 66: 1221-1228, 2000. PubMed: 10739753 Meira LB, et al. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am. J. Hum. Genet. 66: 1221-1228, 2000. PubMed: 10739753 Meira LB, et al. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am. J. Hum. Genet. 66: 1221-1228, 2000. PubMed: 10739753 |