Cellosaurus cell line HIHRSi002-A (CVCL

Cross-references
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; HGNC:4177; GBA1; Simple; p.Trp223Arg (c.667T>C) (W184R); ClinVar=VCV000093457; Zygosity=Heterozygous (PubMed=30606667). Mutation; HGNC; 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 Maike Nagel, Jennifer Reichbauer, Judith Bohringer, Yvonne Schelling, Ingeborg Krageloh-Mann, Rebecca Schule, Ulrike Ulmer; Generation of two iPSC lines derived from two unrelated patients with Gaucher disease. Stem Cell Res. 35:101336-101336(2019)
Cell line databases/resources	hPSCreg; HIHRSi002-A
Encyclopedic resources	Wikidata; Q94208343
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	11