Cellosaurus cell line iPSC 08-46 (CVCL

Cellosaurus iPSC 08-46 (CVCL_A7HI)

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Cell line name

iPSC 08-46

Accession

CVCL_A7HI

Resource Identification Initiative

To cite this cell line use: iPSC 08-46 (RRID:CVCL_A7HI)

Comments

Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Arg490Trp (c.1468C>T); ClinVar=VCV000166790; Zygosity=Heterozygous (PubMed=33862537).
Mutation; HGNC; HGNC:1480; CAPN3; Simple; p.Arg788Serfs*14 (c.2362_2363delAGinsTCATCT); ClinVar=VCV000017618; Zygosity=Heterozygous (PubMed=33862537).

Disease

Limb-girdle muscular dystrophy type 2A (NCIt: C142079)
Autosomal recessive limb-girdle muscular dystrophy type 2A (ORDO: Orphanet_267)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Male

Age at sampling

33Y

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=33862537

Markers:

Amelogenin	X,Y
CSF1PO	11
D5S818	12
D7S820	9,10
D13S317	12,13
D16S539	11
D21S11	30,32.2
TH01	9
TPOX	8,11
vWA	16,19

Publications

PubMed=33862537; DOI=10.1016/j.scr.2021.102333
Alba Judith Mateos-Aierdi, Martxel Dehesa-Etxebeste, Maria Goicoechea, Ana Aiastui, Yvonne Richaud-Patin, Senda Jimenez-Delgado, Angel Raya, Neia Naldaiz-Gastesi, Adolfo Lopez de Munain;
Patient-specific iPSC-derived cellular models of LGMDR1.
Stem Cell Res. 53:102333-102333(2021)

Cross-references

Encyclopedic resources

Wikidata; Q107115469

Entry history

Entry creation

20-May-2021

Last entry update

19-Dec-2024

Version number