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Cellosaurus BCRTi002-A (CVCL_9S04)

[Text version]
Cell line name BCRTi002-A
Synonyms P02-1
Accession CVCL_9S04
Resource Identification Initiative To cite this cell line use: BCRTi002-A (RRID:CVCL_9S04)
Comments From: Berlin-Brandenburg Center for Regenerative Therapies; Berlin; Germany.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (PubMed=27345784).
Disease Fibrodysplasia ossificans progressiva (NCIt: C3040)
Fibrodysplasia ossificans progressiva (ORDO: Orphanet_337)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 20-24Y
Category Induced pluripotent stem cell
Publications

PubMed=27345784; DOI=10.1016/j.scr.2015.11.017
Hildebrand L., Rossbach B., Kuhnen P., Gossen M., Kurtz A., Reinke P., Seemann P., Stachelscheid H.
Generation of integration free induced pluripotent stem cells from fibrodysplasia ossificans progressiva (FOP) patients from urine samples.
Stem Cell Res. 16:54-58(2016)

Cross-references
Cell line databases/resources hPSCreg; BCRTi002-A
SKIP; SKIP002626
Encyclopedic resources Wikidata; Q54795714
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number12