ID   SZ-OI8
AC   CVCL_YL60
SY   SZ-OI8 PGD; OI#8
DR   NIHhESC; NIHhESC-20-0460
DR   Wikidata; Q98133034
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0460.
CC   Sequence variation: Mutation; HGNC; HGNC:2197; COL1A1; Simple; p.Arg361Ter (c.1081C>T); ClinVar=VCV000425593; Zygosity=Unspecified (Direct_author_submission).
CC   Miscellaneous: Sequence variation from personal communication of Eiges, Rachel.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C99003; Osteogenesis imperfecta type I
DI   ORDO; Orphanet_216796; Osteogenesis imperfecta type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 9
//