Cell line name |
GM00811 |
Synonyms |
GM-811; GM0811; GM811; GM 811; GM00811B |
Accession |
CVCL_U702 |
Resource Identification Initiative |
To cite this cell line use: GM00811 (RRID:CVCL_U702) |
Comments |
Population: Jewish; Ashkenazi. Omics: miRNA expression profiling. Donor information: From Bloom Syndrome Registry patient 3(HoCo) (BSR3). Derived from sampling site: Skin. Cell type=Fibroblast. |
Sequence variations |
- Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell).
|
Disease |
Bloom syndrome (NCIt: C2903) Bloom syndrome (ORDO: Orphanet_125) |
Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
Originate from same individual |
CVCL_U705 ! GM02932 |
Sex of cell |
Male |
Age at sampling |
4Y |
Category |
Finite cell line |
Publications | DOI=10.5962/bhl.title.4090 Coriell L.L., Greene A.E. The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977. (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977) PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x German J.L. III, Bloom D., Passarge E. Bloom's syndrome. V. Surveillance for cancer in affected families. Clin. Genet. 12:162-168(1977) PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x German J.L. III, Bloom D., Passarge E. Bloom's syndrome. VII. Progress report for 1978. Clin. Genet. 15:361-367(1979) CLPUB00387 Coriell L.L., Greene A.E., Mulivor R.A. The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980. (In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980) PubMed=2878433; DOI=10.1098/rspb.1986.0070 Huschtscha L.I., Thompson K.V.A., Holliday R. The susceptibility of Werner's syndrome and other human skin fibroblasts to SV40-induced transformation and immortalization. Proc. R. Soc. Lond. B. Biol. Sci. 229:1-12(1986) CLPUB00447 Mulivor R.A., Suchy S.F. 1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992. (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992) |
Cross-references |
Cell line collections |
Coriell; GM00811 - Discontinued
|
Cell line databases/resources |
CLO; CLO_0029646
|
Encyclopedic resources |
Wikidata; Q54836466
|
Gene expression databases |
GEO; GSM1317007
|
Entry history |
Entry creation | 16-Apr-2014 |
Last entry update | 21-Mar-2023 |
Version number | 16 |
---|