Cellosaurus logo
expasy logo

Cellosaurus SHETi001-A (CVCL_A1TF)

[Text][XML][JSON]
Cell line name SHETi001-A
Synonyms SHCHjhj-2A
Accession CVCL_A1TF
Resource Identification Initiative To cite this cell line use: SHETi001-A (RRID:CVCL_A1TF)
Comments From: Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:16974; SRCAP; Simple; p.Phe151Cysfs*71 (c.452_453del); Zygosity=Heterozygous (PubMed=33517121).
Disease Floating-Harbor syndrome (NCIt: C175241)
Floating-Harbor syndrome (ORDO: Orphanet_2044)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y4M
Category Induced pluripotent stem cell
Publications

PubMed=33517121; DOI=10.1016/j.scr.2021.102182
Cui-Lan Hou, Li-Jian Xie, Qing-Zhu Qiu, Hao Lin, Wei Liu, Xiao-Min Sun, Yong-Wei Zhang, Meng Xu, Yun Li, Ting-Ting Xiao;
Generation of an induced pluripotent stem cell line from a Chinese Han infant with floating-harbor syndrome accompanied with dilated cardiomyopathy.
Stem Cell Res. 51:102182-102182(2021)

Cross-references
Cell line databases/resources hPSCreg; SHETi001-A
Biological sample resources BioSamples; SAMEA7655489
Encyclopedic resources Wikidata; Q105511074
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number5