ID   FDCHi004-A
AC   CVCL_ZX40
SY   CHFUi001-A; iPS-39
DR   BioSamples; SAMEA7002467
DR   hPSCreg; FDCHi004-A
DR   SKIP; SKIP005864
DR   Wikidata; Q102113817
RX   PubMed=32659730;
CC   From: Children's Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:2198; COL1A2; Simple; p.Gly328Ser (c.982G>A); ClinVar=VCV000456848; Zygosity=Heterozygous (PubMed=32659730).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98576; Osteogenesis imperfecta type IV
DI   ORDO; Orphanet_216820; Osteogenesis imperfecta type 4
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 6
//
RX   PubMed=32659730; DOI=10.1016/j.scr.2020.101907;
RA   Zheng Z.-Q., Lu W., Pei Z., Chen J., Yang T., Luo F.-H.;
RT   "Generation of an induced pluripotent stem cell line (CHFUi001-A) from
RT   an osteogenesis imperfecta patient with COL1A2 mutation.";
RL   Stem Cell Res. 47:101907-101907(2020).
//