Cellosaurus cell line TRNDi012-B (CVCL

Cross-references
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; 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; PMCID=PMC9428929 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)
Cell line collections (Providers)	Coriell; GM28385
Cell line databases/resources	hPSCreg; TRNDi012-B
Encyclopedic resources	Wikidata; Q108821385
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	8