| Cell line name |
GM00989 |
| Synonyms |
GM-989; GM00989B; AG00989; AG-989; AG00989B; AG0989B |
| Accession |
CVCL_CV39 |
| Secondary accession |
CVCL_W837 |
| Resource Identification Initiative |
To cite this cell line use: GM00989 (RRID:CVCL_CV39) |
| Comments |
Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620. |
| Sequence variations |
- Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Arg644Cys (c.1930C>T); ClinVar=VCV000014527; Zygosity=Heterozygous (Coriell=GM00989).
|
| Disease |
Progeria (NCIt: C34951) Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740) |
| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
| Sex of cell |
Male |
| Age at sampling |
20Y |
| Category |
Finite cell line |
| Publications | DOI=10.5962/bhl.title.4090 Lewis Lemon Coriell, Arthur E. Greene; 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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0 Nirmal K. Das, Donald G. Murphy; The National Institute on Aging repository cell cultures. Mech. Ageing Dev. 16:1-17(1981) CLPUB00447 Richard A. Mulivor, Sharon F. Suchy; 1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) CLPUB00597 National Institute on Aging 1994 catalog of cell lines. NIA Aging Cell Repository. (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994) |
| Cross-references |
| Cell line collections (Providers) |
Coriell; AG00989
Coriell; GM00989
|
| Cell line databases/resources |
CLO; CLO_0029474
CLO; CLO_0036917
|
| Encyclopedic resources |
Wikidata; Q54836584
|
| Entry history |
| Entry creation | 13-Jul-2016 |
| Last entry update | 19-Dec-2024 |
| Version number | 15 |
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