ID   TRNDi012-B
AC   CVCL_A0LK
SY   NCATS-CL7989; HT216B; GM28385; GM28385*B
DR   Coriell; GM28385
DR   hPSCreg; TRNDi012-B
DR   Wikidata; Q108821385
RX   PubMed=34139597;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (PubMed=34139597).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3040; Fibrodysplasia ossificans progressiva
DI   ORDO; Orphanet_337; Fibrodysplasia ossificans progressiva
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W541 ! GM00513
SX   Female
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 05-10-23; Version: 7
//
RX   PubMed=34139597; DOI=10.1016/j.scr.2021.102424;
RA   Huang X.-L., Roeder A., Li R., Beers J.K., Liu C.-Y., Zou J.-H.,
RA   Yu P.B., Zheng W.;
RT   "Generation of an induced pluripotent stem cell line (TRNDi012-B) from
RT   fibrodysplasia ossificans progressiva (FOP) patient carrying a
RT   heterozygous mutation c. 617G > A in the ACVR1 gene.";
RL   Stem Cell Res. 54:102424-102424(2021).
//