Home  |  Contact

Cellosaurus SHCDNi001-A (CVCL_YT40)

[Text version]
Cell line name SHCDNi001-A
Synonyms SHCDN001
Accession CVCL_YT40
Resource Identification Initiative To cite this cell line use: SHCDNi001-A (RRID:CVCL_YT40)
Comments From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 13601; FBXL4; Simple; p.Leu332Thrfs*3 (c.993dupA); Zygosity=Homozygous (PubMed=32416579).
Disease Mitochondrial DNA depletion syndrome 13 (NCIt: C172095)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (ORDO: Orphanet_369897)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=32416579; DOI=10.1016/j.scr.2020.101832
Yuan F., Wang C.-M., Xi J.-M., Wang S.-M., Lin L.-L., Wang Y.-L., Wang A.-Q., Wang C., Luo X.-N., Xu Q.-M., Yin R.-R., Cheng H.-Y., Zhang Y.-F., Sun X.-M., Chen Y.-C.
Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13.
Stem Cell Res. 45:101832-101832(2020)

Cross-references
Cell line databases/resources hPSCreg; SHCDNi001-A
SKIP; SKIP005801
Biological sample resources BioSamples; SAMEA6880588
Encyclopedic resources Wikidata; Q98132501
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7