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Cellosaurus IMEDEAi005-A (CVCL_UJ73)

[Text version]
Cell line name IMEDEAi005-A
Synonyms iPS GM02931 CL2
Accession CVCL_UJ73
Resource Identification Initiative To cite this cell line use: IMEDEAi005-A (RRID:CVCL_UJ73)
Comments From: Instituto Mediterraneo de Estudios Avanzados; Esporles; Spain.
Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7632; NAGLU; Simple; p.Pro358Leu (c.1073C>T); ClinVar=VCV000631771; Zygosity=Homozygous (PubMed=30408744).
Disease Mucopolysaccharidosis type IIIB (NCIt: C84898)
Sanfilippo syndrome type B (ORDO: Orphanet_79270)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0M05 (GM02931)
Sex of cell Female
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=30408744; DOI=10.1016/j.scr.2018.10.019
Vallejo-Diez S., Fleischer A., Martin-Fernandez J.M., Sanchez-Gilabert A., Bachiller D.
Generation of two induced pluripotent stem cells lines from a mucopolysaccharydosis IIIB (MPSIIIB) patient.
Stem Cell Res. 33:180-184(2018)

Cross-references
Cell line databases/resources hPSCreg; IMEDEAi005-A
Encyclopedic resources Wikidata; Q94316122
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number8