ID   TRNDi012-E
AC   CVCL_A0LN
SY   HT216E
DR   hPSCreg; TRNDi012-E
DR   Wikidata; Q108821388
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 (from parent cell line).
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: 29-06-23; Version: 6
//