ID   FDCHi015-A
AC   CVCL_D6I0
SY   ALDOB-IPSC-M
DR   BioSamples; SAMEA115068019
DR   hPSCreg; FDCHi015-A
DR   Wikidata; Q127380846
RX   PubMed=38820866;
CC   From: Children's Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:417; ALDOB; Simple; p.Asn120Lysfs*32 (c.360_363delCAAA); ClinVar=VCV000188861; Zygosity=Heterozygous (PubMed=38820866).
CC   Sequence variation: Mutation; HGNC; HGNC:417; ALDOB; Simple; p.Ala338Val (c.1013C>T); ClinVar=VCV000188739; Zygosity=Heterozygous (PubMed=38820866).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=38820866
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 11
ST   D16S539: 12
ST   D5S818: 9,13
ST   D7S820: 12
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 16
DI   NCIt; C84720; Hereditary fructose intolerance
DI   ORDO; Orphanet_469; Hereditary fructose intolerance
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38820866; DOI=10.1016/j.scr.2024.103451;
RA   Yin T.-T., Liao Y.-F., Li X., Wang H.-J., Wu B.-B., Dong X.-R.;
RT   "Characterization of a human induced pluripotent stem cell line
RT   (FDCHi015-A) derived from PBMCs of a patient harbouring ALDOB
RT   mutation.";
RL   Stem Cell Res. 78:103451-103451(2024).
//