Cellosaurus logo
expasy logo

Cellosaurus FDCHi004-A (CVCL_ZX40)

[Text version]
Cell line name FDCHi004-A
Synonyms CHFUi001-A; iPS-39
Accession CVCL_ZX40
Resource Identification Initiative To cite this cell line use: FDCHi004-A (RRID:CVCL_ZX40)
Comments From: Children's Hospital of Fudan University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2198; COL1A2; Simple; p.Gly328Ser (c.982G>A); ClinVar=VCV000456848; Zygosity=Heterozygous (PubMed=32659730).
Disease Osteogenesis imperfecta type IV (NCIt: C98576)
Osteogenesis imperfecta type 4 (ORDO: Orphanet_216820)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=32659730; DOI=10.1016/j.scr.2020.101907
Zheng Z.-Q., Lu W., Pei Z., Chen J., Yang T., Luo F.-H.
Generation of an induced pluripotent stem cell line (CHFUi001-A) from an osteogenesis imperfecta patient with COL1A2 mutation.
Stem Cell Res. 47:101907-101907(2020)

Cross-references
Cell line databases/resources hPSCreg; FDCHi004-A
SKIP; SKIP005864
Biological sample resources BioSamples; SAMEA7002467
Encyclopedic resources Wikidata; Q102113817
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number5