Cellosaurus cell line FDCHi015-A (CVCL

Cellosaurus FDCHi015-A (CVCL_D6I0)

[Text version]

Cell line name

FDCHi015-A

Synonyms

ALDOB-IPSC-M

Accession

CVCL_D6I0

Resource Identification Initiative

To cite this cell line use: FDCHi015-A (RRID:CVCL_D6I0)

Comments

From: Children's Hospital of Fudan University; Shanghai; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:417; ALDOB; Simple; p.Asn120Lysfs*32 (c.360_363delCAAA); ClinVar=VCV000188861; Zygosity=Heterozygous (PubMed=38820866).
Mutation; HGNC; HGNC:417; ALDOB; Simple; p.Ala338Val (c.1013C>T); ClinVar=VCV000188739; Zygosity=Heterozygous (PubMed=38820866).

Disease

Hereditary fructose intolerance (NCIt: C84720)
Hereditary fructose intolerance (ORDO: Orphanet_469)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

36Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=38820866

Markers:

Amelogenin	X
CSF1PO	11,12
D5S818	9,13
D7S820	12
D13S317	11
D16S539	12
TH01	7,9
TPOX	8,11
vWA	16

Publications

PubMed=38820866; DOI=10.1016/j.scr.2024.103451
Yin T.-T., Liao Y.-F., Li X., Wang H.-J., Wu B.-B., Dong X.-R.
Characterization of a human induced pluripotent stem cell line (FDCHi015-A) derived from PBMCs of a patient harbouring ALDOB mutation.
Stem Cell Res. 78:103451-103451(2024)

Cross-references

Cell line databases/resources

hPSCreg; FDCHi015-A

Biological sample resources

BioSamples; SAMEA115068019

Encyclopedic resources

Wikidata; Q127380846

Entry history

Entry creation

02-May-2024

Last entry update

19-Dec-2024

Version number