Cellosaurus logo
expasy logo

Cellosaurus MUSIi019-A (CVCL_C0FI)

[Text version]
Cell line name MUSIi019-A
Synonyms SLC4A1-21-C1
Accession CVCL_C0FI
Resource Identification Initiative To cite this cell line use: MUSIi019-A (RRID:CVCL_C0FI)
Comments From: Faculty of Medicine Siriraj Hospital, Mahidol University; Bangkok; Thailand.
Population: Southeast Asian; Thai.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11027; SLC4A1; Simple; p.Ala400_Ala408del (c.1199_1225del); ClinVar=VCV000017753; Zygosity=Heterozygous (PubMed=36791635).
  • Mutation; HGNC; 11027; SLC4A1; Simple; p.Thr444Asn (c.1331C>A); ClinVar=VCV001691099; Zygosity=Heterozygous (PubMed=36791635).
Disease Autosomal recessive distal renal tubular acidosis-4 with hemolytic anemia (NCIt: C198574)
Distal renal tubular acidosis with anemia (ORDO: Orphanet_93610)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 39Y
Category Induced pluripotent stem cell

PubMed=36791635; DOI=10.1016/j.scr.2023.103043
Kaewboonlert N., Wattanapanitch M., Praditsap O., Deejai N., Chanprasert C., Sawasdee N., Nettuwakul C., Wanachiwanawin W., Sritippayawan S., Jungtrakoon Thamtarana P., Yenchitsomanus P.-T., Rungroj N.
An induced pluripotent stem cell line (MUSIi019-A) generated from a patient with distal renal tubular acidosis carrying a compound heterozygous mutation in solute carrier family 4 member 1 (SLC4A1) gene.
Stem Cell Res. 67:103043-103043(2023)

Cell line databases/resources hPSCreg; MUSIi019-A
Biological sample resources BioSamples; SAMEA112365036
Encyclopedic resources Wikidata; Q112930147
Entry history
Entry creation23-Jun-2022
Last entry update05-Oct-2023
Version number5