Cellosaurus cell line MUSIi019-A (CVCL

Cellosaurus MUSIi019-A (CVCL_C0FI)

Cross-references
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; HGNC:11027; SLC4A1; Simple; p.Ala400_Ala408del (c.1199_1225del); ClinVar=VCV000017753; Zygosity=Heterozygous (PubMed=36791635). Mutation; HGNC; 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
Publications	PubMed=36791635; DOI=10.1016/j.scr.2023.103043 Narissara Kaewboonlert, Methichit Wattanapanitch, Oranud Praditsap, Nipaporn Deejai, Chutima Chanprasert, Nunghathai Sawasdee, Choochai Nettuwakul, Wanchai Wanachiwanawin, Suchai Sritippayawan, Prapaporn Jungtrakoon Thamtarana, Pa-Thai Yenchitsomanus, Nanyawan Rungroj; 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 creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6