ID   MUSIi019-A
AC   CVCL_C0FI
SY   SLC4A1-21-C1
DR   BioSamples; SAMEA112365036
DR   hPSCreg; MUSIi019-A
DR   Wikidata; Q112930147
RX   PubMed=36791635;
CC   From: Faculty of Medicine Siriraj Hospital, Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; 11027; SLC4A1; Simple; p.Ala400_Ala408del (c.1199_1225del); ClinVar=VCV000017753; Zygosity=Heterozygous (PubMed=36791635).
CC   Sequence variation: Mutation; HGNC; 11027; SLC4A1; Simple; p.Thr444Asn (c.1331C>A); ClinVar=VCV001691099; Zygosity=Heterozygous (PubMed=36791635).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198574; Autosomal recessive distal renal tubular acidosis-4 with hemolytic anemia
DI   ORDO; Orphanet_93610; Distal renal tubular acidosis with anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 05-10-23; Version: 5
//
RX   PubMed=36791635; DOI=10.1016/j.scr.2023.103043;
RA   Kaewboonlert N., Wattanapanitch M., Praditsap O., Deejai N.,
RA   Chanprasert C., Sawasdee N., Nettuwakul C., Wanachiwanawin W.,
RA   Sritippayawan S., Jungtrakoon Thamtarana P., Yenchitsomanus P.-T.,
RA   Rungroj N.;
RT   "An induced pluripotent stem cell line (MUSIi019-A) generated from a
RT   patient with distal renal tubular acidosis carrying a compound
RT   heterozygous mutation in solute carrier family 4 member 1 (SLC4A1)
RT   gene.";
RL   Stem Cell Res. 67:103043-103043(2023).
//