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Cellosaurus TRNDi012-B (CVCL_A0LK)

[Text version]
Cell line name TRNDi012-B
Synonyms NCATS-CL7989; HT216B; GM28385; GM28385*B
Accession CVCL_A0LK
Resource Identification Initiative To cite this cell line use: TRNDi012-B (RRID:CVCL_A0LK)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (PubMed=34139597).
Disease Fibrodysplasia ossificans progressiva (NCIt: C3040)
Fibrodysplasia ossificans progressiva (ORDO: Orphanet_337)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W541 (GM00513)
Sex of cell Female
Age at sampling 16Y
Category Induced pluripotent stem cell
Publications

PubMed=34139597; DOI=10.1016/j.scr.2021.102424
Huang X.-L., Roeder A., Li R., Beers J.K., Liu C.-Y., Zou J.-H., Yu P.B., Zheng W.
Generation of an induced pluripotent stem cell line (TRNDi012-B) from fibrodysplasia ossificans progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene.
Stem Cell Res. 54:102424-102424(2021)

Cross-references
Cell line collections (Providers) Coriell; GM28385
Cell line databases/resources hPSCreg; TRNDi012-B
Encyclopedic resources Wikidata; Q108821385
Entry history
Entry creation23-Sep-2021
Last entry update05-Oct-2023
Version number7