AG00990
Fibroblast from Skin, Skin
Description:
SEIP SYNDROME
LAMIN A/C; LMNA
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Skin
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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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Fibroblast from Skin, Skin
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Race
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White
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Family Member
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1
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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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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 |
13 |
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| Gene |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 1 |
T10I; SEIP SYNDROME |
| Identified Mutation |
THR10ILE |
| Remarks |
Donor displayed hypertriglyceridemia and an abnormal glucose tolerance test. He was originally diagnosed as atypical progeria. The culture was initiated on 8/27/73 from explants of skin taken ante-mortem and was designated KH2. The cell morphology is fibroblast-like. The karyotype is 46,XY; normal diploid male and 25% of cells examined showed chromatid or chromosome breakage. Abnormal nuclei were observed in 92% of the cells. This donor is heterozygous for a C-to-T substitution at nucleotide 241 (241C>T) in exon 1 of the LMNA gene, resulting in a missense mutation in codon 10 [THR10ILE (T10I)]. This mutation affects both Lamin A and C in the N-terminal head domain. Please note that this line does not meet Coriell's typical quality standards for growth. It will be shipped frozen only. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Della Valle F, Reddy P, Yamamoto M, Liu P, Saera-Vila A, Bensaddek D, Zhang H, Prieto Martinez J, Abassi L, Celii M, Ocampo A, Nuñez Delicado E, Mangiavacchi A, Aiese Cigliano R, Rodriguez Esteban C, Horvath S, Izpisua Belmonte JC, Orlando V, LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes Science translational medicine14:eabl6057 2022 |
| PubMed ID: 35947677 |
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| Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA, Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet41(4):304-8 2004 |
| PubMed ID: 15060110 |
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| Little JB, Relationship between DNA repair capacity and cellular aging. Gerontology22:28-55 1976 |
| PubMed ID: 1107150 |
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| Epstein J, Williams JR, Little JB, Rate of DNA repair in progeric and normal human fibroblasts. Biochem Biophys Res Commun59:850-7 1974 |
| PubMed ID: 4415479 |
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| Regan JD, Setlow RB, DNA repair in human progeroid cells. Biochem Biophys Res Commun59:858-64 1974 |
| PubMed ID: 4412878 |
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| Epstein J, Williams JR, Little JB, Deficient DNA repair in human progeroid cells. Proc Natl Acad Sci U S A70:977-81 1973 |
| PubMed ID: 4515628 |
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| Danes BS, Progeria: a cell culture study on aging. J Clin Invest50:2000-3 1971 |
| PubMed ID: 5564400 |
| Passage Frozen |
13 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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