Characterization of a spontaneous cell line from primary mouse fibroblasts as a model to study Sanfilippo syndrome
Summary
To evaluate a new approach to Mucopolysaccharidosis type IIIA (MPS-IIIA), work was initiated on primary fibroblasts from a well-known mouse model in which sulfamidase deficiency correlates with the accumulation of heparan sulfate - the hallmark of this disease. Once the culture of fibroblasts was established, we observed continuous proliferation with a rapid growth rate, loss of contact inhibition and late passage stability, corresponding to a spontaneously immortalized cell line. The presence of the single point D31N mutation was verified and both rapid and abundant intracellular accumulation of low molecular weight HS was observed, confirming both genotype and phenotype. This cell line is a potential in vitro model system for future studies of MPS-IIIA prior to employing animal models. Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.
| Authors | Veraldi N, Dentand Quadri I, de Agostini A |
|---|---|
| Journal | The international journal of biochemistry & cell biology |
| Publication Date | 2022 Jan;142:106119 |
| PubMed | 34823007 |
| DOI | 10.1016/j.biocel.2021.106119 |