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Cellosaurus GM01972 (CVCL_F261)

[Text version]
Cell line name GM01972
Synonyms GM-1972; GM01972A; AG01972; AG-1972; AG 1972; AG1972; AG01972A; AG01972B
Accession CVCL_F261
Secondary accession CVCL_F262
Resource Identification Initiative To cite this cell line use: GM01972 (RRID:CVCL_F261)
Comments Population: Caucasian.
Derived from site: In situ; Chest, skin; UBERON=UBERON_0001868.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6636; LMNA; Simple; p.Gly608Gly (c.1824C>T); ClinVar=VCV000014500; Zygosity=Heterozygous; Note=Creates an exonic consensus splice donor sequence that leads to the activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids (PubMed=12714972; Coriell=GM01972).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UX47 (AG27221)CVCL_L655 (HGPS-iPSC#1)CVCL_L656 (HGPS-iPSC#2)
CVCL_L657 (HGPS-iPSC#3)CVCL_L658 (HGPS-iPSC#4)CVCL_L659 (HGPS-iPSC#5)
CVCL_L660 (HGPS-iPSC#6)
Sex of cell Female
Age at sampling 13Y10M
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)

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=7471105
Weichselbaum R.R., Nove J., Little J.B.
X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders.
Cancer Res. 40:920-925(1980)

PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0
Das N.K., Murphy D.G.
The National Institute on Aging repository cell cultures.
Mech. Ageing Dev. 16:1-17(1981)

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)

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

PubMed=12714972; DOI=10.1038/nature01629
Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature 423:293-298(2003)

Cross-references
Cell line collections (Providers) Coriell; AG01972
Coriell; GM01972
Cell line databases/resources CLO; CLO_0032341
CLO; CLO_0036882
Biological sample resources BioSample; SAMN00807344
Encyclopedic resources Wikidata; Q54837209
Gene expression databases GEO; GSM603044
GEO; GSM603045
Entry history
Entry creation22-Oct-2012
Last entry update30-Jan-2024
Version number19