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Cellosaurus HELPi001-A (CVCL_WN17)

[Text version]

Cell line name HELPi001-A
Synonyms BS-TL-1
Accession CVCL_WN17
Resource Identification Initiative To cite this cell line use: HELPi001-A (RRID:CVCL_WN17)
Comments From: Help Stem Cell Innovations Co., Ltd; Nanjing; China.
Population: Chinese; Han.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 3604; FBN2; Simple; p.Ile243Thr (c.728T>C); ClinVar=VCV000137358; Zygosity=Heterozygous (PubMed=31426022).
Disease Congenital contractural arachnodactyly (NCIt: C129865)
Congenital contractural arachnodactyly (ORDO: Orphanet_115)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 35Y
Category Induced pluripotent stem cell
Publications

PubMed=31426022; DOI=10.1016/j.scr.2019.101535
Liu H., Tsui Y.-P., Wang J.-X., Su C., Zheng R., Shao Y.-F., Ni B.-Q.
Establishment of a Beals syndrome patient-derived human induced pluripotent stem cell line HELPi001-A.
Stem Cell Res. 40:101535-101535(2019)

Cross-references
Cell line databases/resources hPSCreg; HELPi001-A
Biological sample resources BioSamples; SAMEA5728929
Encyclopedic resources Wikidata; Q94101557
Entry history
Entry creation24-May-2019
Last entry update20-May-2021
Version number6