NA21939
DNA from Fibroblast
Description:
MARFAN SYNDROME; MFS
FIBRILLIN 1; FBN1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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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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DNA from Fibroblast
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| PDL at Freeze |
7.25 |
| Passage Frozen |
16 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
FBN1 |
| Chromosomal Location |
15q21.1 |
| Allelic Variant 1 |
deleted exons 42 and 43; MARFAN SYNDROME |
| Identified Mutation |
DEL EX42-43 |
| Remarks |
Clinically affected; long fingers at birth; bilateral lens dislocation; adult height of 186cm with long arms and legs; narrow highly arched palate; dental crowding; chest asymmetry and pectus deformity (upper sternum protrudes); hyperextensible large and small joints; arthritis; arachnodactyly; frequent thumb dislocations; pes planus; thin fragile skin; ectopia lentis; high-grade myopia; glaucoma requiring surgery at 18 years of age; cardiac arrhythmia; aortic root diameter was 4.5cm at age 46 years; no family history; donor subject has a genomic deletion of exons 42 and 43 of the FBN1 gene |
| Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020 |
| PubMed ID: 32706999 |
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| Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U, Multi-exon deletions of the FBN1 gene in Marfan syndrome BMC medical genetics2:11 2001 |
| PubMed ID: 11710961 |
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