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Cellosaurus BCHNi001-A (CVCL_A0LI)

[Text version]
Cell line name BCHNi001-A
Synonyms BCHi001-A
Accession CVCL_A0LI
Resource Identification Initiative To cite this cell line use: BCHNi001-A (RRID:CVCL_A0LI)
Comments From: Department of Nephrology, Beijing Children's Hospital Affiliated to Capital Medical University; Beijing; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 18758; BBS7; Simple; p.Asp252Asn (c.754G>A); Zygosity=Heterozygous (PubMed=34146953).
  • Mutation; HGNC; 18758; BBS7; Simple; c.849+1G>C; ClinVar=VCV001507819; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=34146953).
Disease Bardet-Biedl syndrome (NCIt: C118632)
Bardet-Biedl syndrome (ORDO: Orphanet_110)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=34146953; DOI=10.1016/j.scr.2021.102428
Fu Q., Wang H., Zhou N., Jiang Y.-P., Liang Y., Duan F., Mi L.
Generation of a human iPSC line from a Bardet-Biedl syndrome patient compound heterozygous for the BBS7 variants c.849 + 1G > C/c.754G > A.
Stem Cell Res. 54:102428-102428(2021)

Cross-references
Cell line databases/resources hPSCreg; BCHNi001-A
Biological sample resources BioSamples; SAMEA9465455
Encyclopedic resources Wikidata; Q108819920
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5