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Cellosaurus ATCi001-A (CVCL_B3XP)

[Text version]

Cell line name ATCi001-A
Accession CVCL_B3XP
Resource Identification Initiative To cite this cell line use: ATCi001-A (RRID:CVCL_B3XP)
Comments From: Aegicare (Shenzhen) Technology Co; Shenzhen; China.
Population: Chinese.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 30224; SLC52A2; Simple; p.Ala26Profs*42 (c.75_76insCCTGG); Zygosity=Heterozygous (PubMed=34736036).
  • Mutation; HGNC; 30224; SLC52A2; Simple; p.Cys278delinsCysLeuLeuGly (c.832_833insGCCTGCTGG); Zygosity=Heterozygous (PubMed=34736036).
Disease Brown-Vialetto-van Laere syndrome 2 (NCIt: C183529)
RFVT2-related riboflavin transporter deficiency (ORDO: Orphanet_572543)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=34736036; DOI=10.1016/j.scr.2021.102589
Ma J.-H., Ni K., Cai W., Li B.-Y., Qian Q.-Q., Sun D.
Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2.
Stem Cell Res. 57:102589-102589(2021)

Cross-references
Cell line databases/resources hPSCreg; ATCi001-A
Encyclopedic resources Wikidata; Q110432582
Entry history
Entry creation16-Dec-2021
Last entry update17-Mar-2022
Version number2