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Cellosaurus GM27162 (CVCL_VH44)

[Text version]
Cell line name GM27162
Synonyms GM27162*B
Accession CVCL_VH44
Resource Identification Initiative To cite this cell line use: GM27162 (RRID:CVCL_VH44)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Arg245His (c.734G>A); ClinVar=VCV000005107; Zygosity=Heterozygous (Coriell=GM27162).
Disease Mucopolysaccharidosis type IIIA (NCIt: C84897)
Sanfilippo syndrome type A (ORDO: Orphanet_79269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0M06 (GM06110)
Sex of cell Female
Age at sampling 6Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27162
Encyclopedic resources Wikidata; Q54854147
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number12