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Cellosaurus HIHRSi002-A (CVCL_UL53)

[Text version]
Cell line name HIHRSi002-A
Synonyms iPSC-GBA-2
Accession CVCL_UL53
Resource Identification Initiative To cite this cell line use: HIHRSi002-A (RRID:CVCL_UL53)
Comments From: Hertie-Institut fur Klinische Hirnforschung; Tubingen; Germany.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Trp223Arg (c.667T>C) (W184R); ClinVar=VCV000093457; Zygosity=Heterozygous (PubMed=30606667).
  • Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=30606667).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=30606667; DOI=10.1016/j.scr.2018.10.021
Nagel M., Reichbauer J., Bohringer J., Schelling Y., Krageloh-Mann I., Schule R., Ulmer U.
Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.
Stem Cell Res. 35:101336-101336(2019)

Cross-references
Cell line databases/resources hPSCreg; HIHRSi002-A
Encyclopedic resources Wikidata; Q94208343
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number10