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Cellosaurus SHCDNi002-A (CVCL_YZ99)

[Text version]
Cell line name SHCDNi002-A
Synonyms SHCDN002
Accession CVCL_YZ99
Resource Identification Initiative To cite this cell line use: SHCDNi002-A (RRID:CVCL_YZ99)
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; 11957; MED12; Simple; c.1249-1G>C; ClinVar=VCV001210232; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=32505899).
Disease FG syndrome type 1 (NCIt: C171270)
FG syndrome type 1 (ORDO: Orphanet_93932)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=32505899; DOI=10.1016/j.scr.2020.101838
Wang Y.-L., Yuan F., Wang A.-Q., Wang C., Lin L.-L., Wang S.-M., Wang C.-M., Luo X.-N., Xu Q.-M., Yin R.-R., Cheng H.-Y., Zhang Y.-F., Sun X.-M., Xi J.-M., Yan J.-B., Zeng F.-Y., Chen Y.-C.
Induced pluripotent stem cells (SHCDNi002-A cells) isolated from the peripheral blood mononuclear cells of a 1-year-old Chinese girl with mediator complex subunit 12-related syndrome.
Stem Cell Res. 46:101838-101838(2020)

Cross-references
Cell line databases/resources hPSCreg; SHCDNi002-A
SKIP; SKIP005751
Biological sample resources BioSamples; SAMEA6878082
Encyclopedic resources Wikidata; Q98132502
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number7